Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

We describe the molecular characterization of two mutations responsible for galactosemia, an inherited disorder of galatose metabolism that causes jaundice, cataracts, and mental retardation in humans. The coding region of galactose-1-phosphate uridylyltransferase (GALT; UDPglucose:alpha-D-galactose...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Reichardt, J K, Woo, S L
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1991
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC51292/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2011574/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.7.2633
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