Cargando...

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

The clinical and molecular findings in an infant with mild manifestations of cystic fibrosis, who is homozygous for the G542X mutation, and her heterozygous nephew, who is severely affected, are described.

Gardado en:
Detalles Bibliográficos
Main Authors: Cuppens, H, Marynen, P, Berghe, H Van den, Cassiman, J J, Boeck, C De, Eggermont, E, Baets, F De
Formato: Artigo
Idioma:Inglês
Publicado: 1990
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017267/
https://ncbi.nlm.nih.gov/pubmed/2135388
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!