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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236512/ https://www.ncbi.nlm.nih.gov/pubmed/25124065 http://dx.doi.org/10.1186/s12881-014-0094-5

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