The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

The splicing variant, 5T allele, in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was shown to be associated with partial penetrance of the clinical expression. This splicing variant leads to two possible transcripts: one normal and the other aberrantly spliced that...

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Bibliografiske detaljer
Main Authors: Rave-Harel, N, Kerem, E, Nissim-Rafinia, M, Madjar, I, Goshen, R, Augarten, A, Rahat, A, Hurwitz, A, Darvasi, A, Kerem, B
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712544/
https://ncbi.nlm.nih.gov/pubmed/8981951
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