Nalaganje...

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

This study reports the first demonstration of specific mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency. The molecular basis of the deficiency was investigated by determining the sequence of both alleles of a patient with a complete deficiency in APRT activity. A trinuc...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:J Clin Invest
Main Authors: Hidaka, Y, Palella, T D, O'Toole, T E, Tarlé, S A, Kelley, W N
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 1987
Teme:
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442397/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3680503/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113219
Oznake: Označite
Brez oznak, prvi označite!