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PMID: 2233965 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

The New England journal of medicine ·Vol. 323 ·No. 24 ·1990-12-13 ·Pages 1685-9

Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Antonarakis SE

Abstract

暂无摘要

MeSH Terms

Adult Base Sequence Child Cystic Fibrosis/complications,genetics Exons Female Humans Lung/physiopathology Lung Diseases/complications,genetics Male Molecular Sequence Data Mutation Polymerase Chain Reaction

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Cutting G R

Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

Kasch L M

Rosenstein B J

Tsui L C

Kazazian H H

Antonarakis S E

Article Info

Journal

The New England journal of medicine

Abbr.

N Engl J Med

ISSN

0028-4793

DOI

10.1056/NEJM199012133232407

Published

1990-12-13

Pages

1685-9

Language

English

Region

United States

NLM ID

0255562

Subset

External Links

PubMed source DOI: 10.1056/NEJM199012133232407 View journal details

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Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

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