Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

BACKGROUND: Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) protein due to mutations in the GALT gene. The aim of this study was to provide a comprehensive and updated mutation s...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: Choi, Rihwa, Jo, Kyoung Il, Ko, Dae-Hyun, Lee, Dong Hwan, Song, Junghan, Jin, Dong-Kyu, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Lee, Yong-Wha, Park, Hyung-Doo
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236512/
https://ncbi.nlm.nih.gov/pubmed/25124065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0094-5
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