A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20–5...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kalaydjieva, Luba, Perez-Lezaun, Anna, Angelicheva, Dora, Onengut, Suna, Dye, Danielle, Bosshard, Nils U., Jordanova, Albena, Savov, Alexei, Yanakiev, Peter, Kremensky, Ivo, Radeva, Brigitta, Hallmayer, Joachim, Markov, Arseni, Nedkova, Vanya, Tournev, Ivailo, Aneva, Lidia, Gitzelmann, Richard
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 1999
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288282/
https://ncbi.nlm.nih.gov/pubmed/10521295
Tagiau: Ychwanegu Tag
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