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Article

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

Human mutation - 1 Jan 1993

Smit L S, Nasr S Z, Iannuzzi M C, Collins F S

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Base Sequence
Black People
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Female
Frameshift Mutation
Homozygote
Humans
Membrane Proteins
Molecular Sequence Data
Phenotype
RNA, Messenger

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Black or African American

Source

Identifiers

PMID: 7686423
DOI: 10.1002/humu.1380020217

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.PMID 7686423Read ↗

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