The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in roma (Gypsy) patients across Europe

Pediatric Research

Volumn 51, Issue 5, 2002, Pages 602-606

  Hunter, Michael ^a   Heyer, Evelyne ^a   Austerlitz, Frederic ^a   Angelicheva, Dora ^a   Nedkova, Vania ^a   Briones, Paz ^a   Gata, Anna ^a   De Pablo, Rosario ^a   Lászĺo, Aranka ^a   Bosshard, Nils ^a   Gitzelmann, Richard ^a   Tordai, Attila ^a   Kalmar, Lajos ^a   Szalai, Csaba ^a   Balogh, Istvan ^a   Lupu, Constantin ^a   Corches, Axinia ^a   Popa, Gabriela ^a   Perez Lezaun, Anna ^a   Kalaydjieva, Luba V ^a  

^a EDITH COWAN UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOKINASE; GENE PRODUCT;

ARTICLE; CATARACT; CATARACTOGENESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DEMOGRAPHY; ENZYME DEFICIENCY; ETHNOLOGY; EUROPE; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; GIPSY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; IMMIGRATION; INBORN ERROR OF METABOLISM; MASS SCREENING; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL;

EID: 0036237961     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200205000-00010     Document Type: Article

References (26)

1. Deficiency of erythrocyte galactokinase in a patient with galactose diabetes
2. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts
3. Cataracts in patients heterozygous for galactokinase deficiency
4. Galactokinase activity in patients with idiopathic cataracts
5. Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn
6. Su un caso di galattosemia da deficit di galattochinasi
7. Hereditary galactokinase deficiency: This week's citation classic
8. Screening for phenylketonuria in a totalitarian state
9. A founder mutation in the GALK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
10. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
11. Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians
12. N-myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
13. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
14. Congenital cataracts facial dysmorphism neuropathy syndrome: A novel developmental disorder in Gypsies maps to 18qter
15. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
16. Screening for galactosemia
17. Cloning the galactokinase cDNA and identification of mutations in two families with cataracts
18. Molecular characterization of galactokinase deficiency in Japanese patients
19. Novel mutations in 13 probands with galactokinase deficiency
20. Novel mutations in the GALK1 gene in patients with galactokinase deficiency
21. Galactose metabolism, hereditary defects and their clinical significance
22. Gypsy populations and their movements within central and eastern Europe and towards some OECD countries
23. Romani east-west migrations: Strangers in anybody's land