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PMID: 7506605 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.

Human molecular genetics ·Vol. 2 ·No. 11 ·1993-11-00 ·Pages 1965-6

Dörk T, Will K, Demmer A, Tümmler B

Abstract

暂无摘要

Related Genes

CFTR

MeSH Terms

Adenine Adult Alternative Splicing Base Sequence Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator DNA Primers Epithelium/metabolism Exons Female Guanine Humans Introns Membrane Proteins/biosynthesis,genetics Molecular Sequence Data Point Mutation Polymerase Chain Reaction RNA, Messenger/metabolism

Chemicals

CFTR protein, human DNA Primers Membrane Proteins RNA, Messenger Cystic Fibrosis Transmembrane Conductance Regulator Guanine Adenine

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Dörk T

Klinische Forschergruppe Molekulare Pathologie der Mukoviszidose, Medizinische Hochschule Hannover, Germany.

Will K

Demmer A

Tümmler B

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/2.11.1965

Published

1993-11-00

Pages

1965-6

Language

English

Region

England

NLM ID

9208958

Subset

External Links

PubMed source DOI: 10.1093/hmg/2.11.1965 View journal details

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A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.

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