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...
Guardat en:
| Publicat a: | Proc Natl Acad Sci U S A |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
1991
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| Matèries: | |
| Accés en línia: | 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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