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

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Congenital cataracts facial dysmorphism neuropathy syndrome: a novel developmental disorder in Gypsies maps to 18q;Angelicheva;Eur J Hum Genet,1999

2. Fine structure of the human galactokinase GALK1 gene;Bergsma;Genome Res,1996

3. Su un caso di galattosemia da deficit di galattochinasi;Bolgiani;Pediatr Med Chir,1984

4. Proof of “disease causing” mutation;Cotton;Hum Mutat,1998

5. Mammalian galactokinase, developmental and adaptive characteristics in the rat liver;Cuatrecasas;J Biol Chem,1965

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