A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

American Journal of Human Genetics

Volumn 65, Issue 5, 1999, Pages 1299-1307

  Kalaydjieva, Luba ^a   Perez Lezaun, Anna ^a,g   Angelicheva, Dora ^a   Onengut, Suna ^a,h   Dye, Danielle ^a   Bosshard, Nils U ^c   Jordanova, Albena ^d   Savov, Alexei ^d   Yanakiev, Peter ^d   Kremensky, Ivo ^d   Radeva, Brigitta ^d   Hallmayer, Joachim ^b   Markov, Arseni ⁱ   Nedkova, Vanya ^e   Tournev, Ivailo ^d   Aneva, Lidia ^f   Gitzelmann, Richard ^c  

^a EDITH COWAN UNIVERSITY   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e Medical School   (Bulgaria)

^f United Regional Hospital   (Bulgaria)

^g UNIVERSITAT POMPEU FABRA   (Spain)

^h BOGAZICI UNIVERSITY   (Turkey)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOKINASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FOUNDER EFFECT; GENE MUTATION; GIPSY; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

EID: 0033358331     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302611     Document Type: Article

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