More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome (OHS). To get a better understanding of molecular changes leading to classic MD and OHS, we took advantage of the unique finding of three patients with similar mutations but different phenotypes. Although all three patients had mutations located in the splice-donor site of intron 6, only two of the patients had the MD phenotype; the third had the OHS phenotype. Fibroblast cultures from the three patients were analyzed by reverse transcriptase (RT)–PCR to try to find an explanation of the different phenotypes. In all three patients, exon 6 was d...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3...
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutat...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. W...
Abstract Background Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper m...
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency...
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency d...
Background: Pronounced intra-familial variability is unusual in Menkes disease and its variants. We ...
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A ...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency d...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3...
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutat...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. W...
Abstract Background Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper m...
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency...
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency d...
Background: Pronounced intra-familial variability is unusual in Menkes disease and its variants. We ...
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A ...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency d...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3...