Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

A splicing mutation was identified at the +5 position of the splice donor site of exon 14b of CFTR in CF patients in a consanguineous family that is remarkable for unusually mild disease. Quantitative studies of nasal epithelial mRNA revealed that homozygotes for the spice site mutation produced app...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 1997, Vol.9 (4), p.332-338
Hauptverfasser:	Highsmith, Jr, W E, Burch, L H, Zhou, Z, Olsen, J C, Strong, T V, Smith, T, Friedman, K J, Silverman, L M, Boucher, R C, Collins, F S, Knowles, M R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Chlorides - analysis Cystic Fibrosis - genetics Cystic Fibrosis - metabolism Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA Mutational Analysis DNA, Complementary - genetics Epithelium Exons - genetics Female Humans Male Nasal Mucosa Pancreas - metabolism Pedigree Point Mutation - genetics RNA Splicing - genetics RNA, Messenger - genetics Sweat - chemistry
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!