Učitavanje...

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or undet...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Reichardt, J K, Packman, S, Woo, S L
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683190/
https://ncbi.nlm.nih.gov/pubmed/1897530
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!