Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: GALK1[original query] |
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The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatric research 2002 May 51 (5): 602-6. Hunter Michael, Heyer Evelyne, Austerlitz Frederic, Angelicheva Dora, Nedkova Vania, Briones Paz, Gata Anna, de Pablo Rosaario, László Aranka, Bosshard Nills, Gitzelmann Richard, Tordai Attila, Kalmar Lajos, Szalai Csaba, Balogh Istvan, Lupu Contantin, Corches Axinia, Popa Gabriela, Perez-Lezaun Anna, Kalaydjieva Luba |
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Molecular vision 2003 Aug 9 (): 397-400. Maraini Giovanni, Hejtmancik J Fielding, Shiels Alan, Mackay Donna S, Aldigeri Raffaella, Jiao Xiao D, Williams Sally L, Sperduto Robert D, Reed Geor |
A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype. BMC medical genetics 2009 Mar 10 (1): 1. Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J |
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan. International journal of neonatal screening 2021 Oct 7 (4): . Kikuchi Atsuo, Wada Yoichi, Ohura Toshihiro, Kure Shig |
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- Page last updated:Apr 22, 2024
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