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PMID: 2135388 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Journal of medical genetics ·Vol. 27 ·No. 11 ·1990-11-00 ·Pages 717-9

Cuppens H, Marynen P, De Boeck C, De Baets F, Eggermont E, Van den Berghe H, Cassiman JJ

Abstract

暂无摘要

MeSH Terms

Base Sequence Child, Preschool Codon Cystic Fibrosis/genetics,physiopathology Exons Female Homozygote Humans Infant Male Molecular Sequence Data Mutation Pedigree Polymerase Chain Reaction

Chemicals

Codon

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Cuppens H

Centre for Human Genetics, University of Leuven, Belgium.

Marynen P

De Boeck C

De Baets F

Eggermont E

Van den Berghe H

Cassiman J J

References (4)

4 references, click to expand

Identification of the cystic fibrosis gene: chromosome walking and jumping.
Science. 1989 Sep 8;245(4922):1059-65 PMID: 2772657
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Science. 1989 Sep 8;245(4922):1066-73 PMID: 2475911
Identification of the cystic fibrosis gene: genetic analysis.
Science. 1989 Sep 8;245(4922):1073-80 PMID: 2570460
A frame-shift mutation in the cystic fibrosis gene.
Nature. 1990 Apr 12;344(6267):665-7 PMID: 1691449

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.27.11.717

Published

1990-11-00

Pages

717-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1017267

Subset

Corrections

CommentIn

PMID: 1770543

External Links

PubMed source DOI: 10.1136/jmg.27.11.717 PMC Full Text View journal details

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A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

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