Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

Human molecular genetics ·Vol. 3 ·No. 4 ·1994-04-00 ·Pages 657-8

Shoshani T, Augarten A, Yahav J, Gazit E, Kerem B

Abstract

暂无摘要

Related Genes

CFTR

MeSH Terms

Base Sequence Child Cystic Fibrosis/ethnology,genetics Cystic Fibrosis Transmembrane Conductance Regulator DNA Mutational Analysis Exons Female Frameshift Mutation Genes Humans Jews/genetics Membrane Proteins/genetics Molecular Sequence Data Point Mutation

Chemicals

CFTR protein, human Membrane Proteins Cystic Fibrosis Transmembrane Conductance Regulator

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Shoshani T

Department of Genetics, Life Sciences Institute, Hebrew University of Jerusalem.

Augarten A

Yahav J

Gazit E

Kerem B

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/3.4.657

Published

1994-04-00

Pages

657-8

Language

English

Region

England

NLM ID

9208958

Subset

External Links

PubMed source DOI: 10.1093/hmg/3.4.657 View journal details

Analysis Services

Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

Contact

WeChat Official Account