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

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Year: 1999
Type: article
Study design: Observational Study
Source: The American Journal of Human Genetics
DOI: 10.1086/302611
Authors: Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer, Arseni Markov, Vanya Nedkova, Ivailo Tournev, Lidia Aneva, Richard Gitzelmann
Institutions: Edith Cowan University, The University of Western Australia, University Children's Hospital Zurich, Medical University of Sofia, University of Münster, Medical University Pleven
Language: English

Topic: Metabolism and Genetic Disorders
Subfield: Clinical Biochemistry
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funder: Edith Cowan University
OpenAlex ID: W2012276452
FWCI: 3.309
Cites: 26
Cited by: 80
Related to: 10
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