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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Bibliografiske detaljer

Udgivet i:	Proc Natl Acad Sci U S A
Principais autores:	Reichardt, J K, Woo, S L
Format:	Artigo
Sprog:	Inglês
Udgivet:	National Academy of Sciences 1991
Fag:	Research Article
Online adgang:	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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