A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)-Reference-Cited by-同舟云学术

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

Published:1999-11 Issue:5 Volume:65 Page:1299-1307
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

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

Cited by 67 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Population history modulates the fitness effects of Copy Number Variation in the Roma;Human Genetics;2023-06-14

2. Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors;Journal of Medicinal Chemistry;2021-09-07

3. Galactokinase deficiency: a treatable cause of bilateral cataracts;BMJ Case Reports;2021-06

4. Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy;Clinical Genetics;2021-04-13

5. The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm;Molecular Biology and Evolution;2021-03-13