A dissertation submitted to the Faculty of Science, University of the Witwatersrand, Johannesburg, in fulfilment of requirements for the degree of Master of Science. Johannesburg, 17 May 1994.Two black South African subjects presenting with hereditary elliptocytosis were investigated and the defect defined as Spol/74, a previously described spectrin variant leading to defective heterodimer self-association and instability of the erythrocyte membrane. [Abbreviated Abstract. Open document to view full version
We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase ...
1974 / 1-4. szám Rusznyák, I.: An appreciation Short biography of Susan R. Hollán ...
peer reviewedHemochromatosis is the most common genetic disorder in persons of northern European des...
Hereditary elliptocytosis (HE) is a group of hemolytic anemias characterized by the presence of elli...
We report the clinical and laboratory findings in three unrelated families from southeastern Brazil ...
β-Spectrin Campinas is a novel spectrin variant associated with a shortened β-chain in a kindred wit...
The genetic mechanisms underlying the continued expression of the γ-globin genes during the adult st...
The R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumo...
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitoch...
The genetic causes of iron deficiency, real or functional, occur due to defects in many proteins inv...
Background:The transition from enucleated reticulocytes to mature normocytes is marked by substantia...
Haem is required for many cellular processes including haemoglobin synthesis in erythroid cells, whe...
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by ...
The major histocompatibility complex (MHC) encodes a diverse selection of genes, many of which have ...
A research report submitted to the faculty of Medicine, University of the Witwatersrand, Johannesbur...
We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase ...
1974 / 1-4. szám Rusznyák, I.: An appreciation Short biography of Susan R. Hollán ...
peer reviewedHemochromatosis is the most common genetic disorder in persons of northern European des...
Hereditary elliptocytosis (HE) is a group of hemolytic anemias characterized by the presence of elli...
We report the clinical and laboratory findings in three unrelated families from southeastern Brazil ...
β-Spectrin Campinas is a novel spectrin variant associated with a shortened β-chain in a kindred wit...
The genetic mechanisms underlying the continued expression of the γ-globin genes during the adult st...
The R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumo...
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitoch...
The genetic causes of iron deficiency, real or functional, occur due to defects in many proteins inv...
Background:The transition from enucleated reticulocytes to mature normocytes is marked by substantia...
Haem is required for many cellular processes including haemoglobin synthesis in erythroid cells, whe...
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by ...
The major histocompatibility complex (MHC) encodes a diverse selection of genes, many of which have ...
A research report submitted to the faculty of Medicine, University of the Witwatersrand, Johannesbur...
We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase ...
1974 / 1-4. szám Rusznyák, I.: An appreciation Short biography of Susan R. Hollán ...
peer reviewedHemochromatosis is the most common genetic disorder in persons of northern European des...