Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

We describe a stratagem for identifying new mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. GALT enzyme activity and isoforms were defined in erythrocytes from probands and their first-degree relatives. If the biochemical phenotypes segregated in an autosomal recessive pattern...

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Hlavní autoři: Elsas, L J, Langley, S, Steele, E, Evinger, J, Fridovich-Keil, J L, Brown, A, Singh, R, Fernhoff, P, Hjelm, L N, Dembure, P P
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801164/
https://ncbi.nlm.nih.gov/pubmed/7887416
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