A carregar...

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

We have determined the mutation in a child with partial adenosine deaminase (ADA) deficiency who is phenotypically homozygous for a mutant ADA gene encoding a heat-labile enzyme (Am. J. Hum. Genet. 38: 13-25). Sequencing of cDNA demonstrated a C to A transversion that results in the replacement of a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hirschhorn, R, Tzall, S, Ellenbogen, A, Orkin, S H
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC303706/
https://ncbi.nlm.nih.gov/pubmed/2783588
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!