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Article

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Cell - 1 Jun 1990

Dean M, White M B, Amos J, Gerrard B, Stewart C, Khaw K T, Leppert M

Abstract excerpt

We have identified three different point mutations in the coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Each mutation segregates with the disease in two- or three-generation pedigrees and is not found on the normal chromosome of any documented cystic fibrosis carrier. One of the mutations is found in two independent families that contain at least one individual with a mild...

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Identifiers

PMID: 2344617
DOI: 10.1016/0092-8674(90)90196-l

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.PMID 2344617Read ↗

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Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.Semantic proximity Read ↗

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