Characterization of human haptoglobin cDNAs coding for α2FSβ and α1Sβ variants

A new hemoglobin variant altering the α1β2 contact: Hb Chemilly α2β2 99(G1)Asp→Val

Rochette, J.
Poyart, C.
Varet, B.
Wajcman, H.

January 1984

AbstractHemoglobin Chemilly (α2β2 99(G1)Asp→Val), a high oxygen affinity variant, was uncovered in t...

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland)

Davidson, Beverly L.
Palella, Thomas D.
Kelley, William N.

August 1988

We have determined the molecular basis for hypoxanthine-guanine phosphoribosyltransferase (HPRT) def...

Two New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence

Bezerra M.A.C.
Albuquerque D.M.
Santos M.N.N.
Kimura E.M.
Jorge S.E.D.C.
Oliveira D.M.
Domingues B.L.T.B.
Peres J.C.
Araujo A.S.
Costa F.F.
Sonati M.F.

November 2015

We describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern...

Characterization of human haptoglobin cDNAs coding for α2FSβ and α1Sβ variants

van der Straten, Ariane
Herzog, Albert
Cabezón, Teresa
Bollen, Alex

March 1984

AbstractA human liver library, derived from a heterozygous (Hp2-1) donor, has been used to isolate c...

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

Moradkhani, K. (Kamran)
Prehu, C. (Claude)
Old, J. (John)
Henderson, S. (Shirley)
Balamitsa, V. (Vera)
Luo, H-Y.
Poon, M-C. (Man-Chiu)
Chui, D.H. (David)
Wajcman, H. (Henri)
Patrinos, G.P. (George)

June 2009

The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and produc...

DNA polymorphisms in the controlling region of the human haptoglobin genes: a molecular explanation for the haptoglobin 2-1 modified phenotype.

Maeda, Nobuyo

January 1991

A haptoglobin 2-1 modified (Hp2-1mod) phenotype results when the amount of Hp2 polypeptide synthesiz...

The Haptoglobin-Gene Deletion Responsible for Anhaptoglobinemia

Koda, Yoshiro
Soejima, Mikiko
Yoshioka, Naofumi
Kimura, Hiroshi

February 1998

SummaryWe have found an allelic deletion of the haptoglobin (Hp) gene from an individual with anhapt...

Mutations in the Paralogous Human α-globin Genes Yielding Identical Hemoglobin Variants

Moradkhani, Kamran
Préhu, Claude
Old, John
Henderson, Shirley
Balamitsa, Vera
Luo, Hong-Yuan
Poon, Man-Chiu
Chui, David H. K.
Wajcman, Henri
Patrinos, George P.

October 2008

The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and produc...

A base substitution in the promoter associated with the human haptoglobin 2-1 modified phenotype decreases transcriptional activity and responsiveness to interleukin-6 in human hepatoma cells.

Grant, Dolores J.
Maeda, Nobuyo

January 1993

An A-to-C base substitution at nucleotide position -61 in the promoter region of the human haptoglob...

The sequence and characterisation of ?-globin haplotypes in human populations

Norwich, J

January 1996

Genetic variation at the human a-globin gene complex has only been characterised to date ...

Recurring exon deletions in the haptoglobin (HP) gene associate with lower blood cholesterol levels

Boettger, Linda M.
Salem, Rany M.
Handsaker, Robert E.
Peloso, Gina
Kathiresan, Sekar
Hirschhorn, Joel
McCarroll, Steven A.

October 2016

Two exons of the human haptoglobin (HP) gene exhibit copy number variation that affects HP multimeri...

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Khalil, MS
Marouf, S
Element, D
Timbs, A
Gallienne, A
Schuh, A
Old, JM
Henderson, S

January 2014

We report here the spectrum of δ-globin gene mutations found in the UK population. Nine different δ ...

The effect of deletions and reduplications on the expression of human α and ζ globin genes

Felice, Alex
McKie, Kathleen M.
McKie, Virgil C.
Huisman, T. H. J.
Fourth Conference on Hemoglobin Switching

January 1984

A number of deletions have been documented among the non-α globin genes of man that are associated w...

The Aγ-195 (c→g) Mutation In Hereditary Persistence Of Fetal Hemoglobin Is Not Associated With Activation Of A Reporter Gene In Vitro

Schreiber R.
Goncalves M.S.
Junqueira M.L.
Saad S.T.O.
Krieger J.E.
Costa F.F.

November 2015

Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression o...

Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia

Ferrão, José
Silva, Marisa
Gonçalves, Lúcia
Gomes, Susana
Coelho, Andreia
Miranda, Armandina
Seuanes, Filomena
Batalha-Reis, Ana
Valtonen-Andrá, C.
Sonesson, A.
Pina, Francisca
Forjaz-Lacera, João
Maia, Raquel
Kjollerstrom, Paula
Lavinha, João
Gonçalves, João
Faustino, Paula

November 2016

Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It...

A new hemoglobin variant altering the α1β2 contact: Hb Chemilly α2β2 99(G1)Asp→Val

Rochette, J.
Poyart, C.
Varet, B.
Wajcman, H.

January 1984

AbstractHemoglobin Chemilly (α2β2 99(G1)Asp→Val), a high oxygen affinity variant, was uncovered in t...

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland)

Davidson, Beverly L.
Palella, Thomas D.
Kelley, William N.

August 1988

We have determined the molecular basis for hypoxanthine-guanine phosphoribosyltransferase (HPRT) def...

Two New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence

Bezerra M.A.C.
Albuquerque D.M.
Santos M.N.N.
Kimura E.M.
Jorge S.E.D.C.
Oliveira D.M.
Domingues B.L.T.B.
Peres J.C.
Araujo A.S.
Costa F.F.
Sonati M.F.

November 2015

We describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern...

Characterization of human haptoglobin cDNAs coding for α2FSβ and α1Sβ variants

van der Straten, Ariane
Herzog, Albert
Cabezón, Teresa
Bollen, Alex

March 1984

AbstractA human liver library, derived from a heterozygous (Hp2-1) donor, has been used to isolate c...

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

Moradkhani, K. (Kamran)
Prehu, C. (Claude)
Old, J. (John)
Henderson, S. (Shirley)
Balamitsa, V. (Vera)
Luo, H-Y.
Poon, M-C. (Man-Chiu)
Chui, D.H. (David)
Wajcman, H. (Henri)
Patrinos, G.P. (George)

June 2009

The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and produc...

DNA polymorphisms in the controlling region of the human haptoglobin genes: a molecular explanation for the haptoglobin 2-1 modified phenotype.

Maeda, Nobuyo

January 1991

A haptoglobin 2-1 modified (Hp2-1mod) phenotype results when the amount of Hp2 polypeptide synthesiz...

The Haptoglobin-Gene Deletion Responsible for Anhaptoglobinemia

Koda, Yoshiro
Soejima, Mikiko
Yoshioka, Naofumi
Kimura, Hiroshi

February 1998

SummaryWe have found an allelic deletion of the haptoglobin (Hp) gene from an individual with anhapt...

Mutations in the Paralogous Human α-globin Genes Yielding Identical Hemoglobin Variants

Moradkhani, Kamran
Préhu, Claude
Old, John
Henderson, Shirley
Balamitsa, Vera
Luo, Hong-Yuan
Poon, Man-Chiu
Chui, David H. K.
Wajcman, Henri
Patrinos, George P.

October 2008

The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and produc...

A base substitution in the promoter associated with the human haptoglobin 2-1 modified phenotype decreases transcriptional activity and responsiveness to interleukin-6 in human hepatoma cells.

Grant, Dolores J.
Maeda, Nobuyo

January 1993

An A-to-C base substitution at nucleotide position -61 in the promoter region of the human haptoglob...

The sequence and characterisation of ?-globin haplotypes in human populations

Norwich, J

January 1996

Genetic variation at the human a-globin gene complex has only been characterised to date ...

Recurring exon deletions in the haptoglobin (HP) gene associate with lower blood cholesterol levels

Boettger, Linda M.
Salem, Rany M.
Handsaker, Robert E.
Peloso, Gina
Kathiresan, Sekar
Hirschhorn, Joel
McCarroll, Steven A.

October 2016

Two exons of the human haptoglobin (HP) gene exhibit copy number variation that affects HP multimeri...

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Khalil, MS
Marouf, S
Element, D
Timbs, A
Gallienne, A
Schuh, A
Old, JM
Henderson, S

January 2014

We report here the spectrum of δ-globin gene mutations found in the UK population. Nine different δ ...

The effect of deletions and reduplications on the expression of human α and ζ globin genes

Felice, Alex
McKie, Kathleen M.
McKie, Virgil C.
Huisman, T. H. J.
Fourth Conference on Hemoglobin Switching

January 1984

A number of deletions have been documented among the non-α globin genes of man that are associated w...

The Aγ-195 (c→g) Mutation In Hereditary Persistence Of Fetal Hemoglobin Is Not Associated With Activation Of A Reporter Gene In Vitro

Schreiber R.
Goncalves M.S.
Junqueira M.L.
Saad S.T.O.
Krieger J.E.
Costa F.F.

November 2015

Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression o...

Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia

Ferrão, José
Silva, Marisa
Gonçalves, Lúcia
Gomes, Susana
Coelho, Andreia
Miranda, Armandina
Seuanes, Filomena
Batalha-Reis, Ana
Valtonen-Andrá, C.
Sonesson, A.
Pina, Francisca
Forjaz-Lacera, João
Maia, Raquel
Kjollerstrom, Paula
Lavinha, João
Gonçalves, João
Faustino, Paula

November 2016

Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It...

A new hemoglobin variant altering the α1β2 contact: Hb Chemilly α2β2 99(G1)Asp→Val

Rochette, J.
Poyart, C.
Varet, B.
Wajcman, H.

January 1984

AbstractHemoglobin Chemilly (α2β2 99(G1)Asp→Val), a high oxygen affinity variant, was uncovered in t...

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland)

Davidson, Beverly L.
Palella, Thomas D.
Kelley, William N.

August 1988

We have determined the molecular basis for hypoxanthine-guanine phosphoribosyltransferase (HPRT) def...

Two New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence

Bezerra M.A.C.
Albuquerque D.M.
Santos M.N.N.
Kimura E.M.
Jorge S.E.D.C.
Oliveira D.M.
Domingues B.L.T.B.
Peres J.C.
Araujo A.S.
Costa F.F.
Sonati M.F.

November 2015

We describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern...

Characterization of human haptoglobin cDNAs coding for α2FSβ and α1Sβ variants

Abstract

Extracted data

Characterization of human haptoglobin cDNAs coding for α2FSβ and α1Sβ variants

Abstract

Extracted data

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