Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

We have identified three mutations associated with transferase-deficiency galactosemia in a three-generation family including affected members in two generations and have modeled all three mutations in a yeast-expression system. A sequence of pedigree, biochemical, and molecular analyses of the gala...

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Main Authors: Fridovich-Keil, J L, Langley, S D, Mazur, L A, Lennon, J C, Dembure, P P, Elsas, J L
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801186/
https://ncbi.nlm.nih.gov/pubmed/7887417
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