Nalaganje...

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

We have investigated the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient who presented with the Lesch-Nyhan syndrome. A catalytically incompetent form of HPRT has been isolated from this patient's erythrocytes and lymphoblasts. This enzyme varian...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Wilson, J M, Kelley, W N
Format: Artigo
Jezik:Inglês
Izdano: 1983
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC436995/
https://ncbi.nlm.nih.gov/pubmed/6853716
Oznake: Označite
Brez oznak, prvi označite!