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Article

Linkage disequilibrium between cystic fibrosis mutations and polymorphic 4-bp repeat within CFTR gene.

Biochemical medicine and metabolic biology - 1 Oct 1993

Gaitskhoki V S, Voronina O V, Potapova OYu, Kirjukhina L V, Gembitskaya T E, Kapranov N I, Petrova N V, Khafizova Z A, Schwartz E I

Abstract excerpt

The PCR technique was used in a study of the linkage of cystic fibrosis mutations and a polymorphic (GATT)n repeat in intron 6 of the CFTR gene. Absolute linkage disequilibrium was found between the common delta F-508 mutation and the (GATT)6 allele. This allele was also in linkage disequilibrium with other unidentified mutations in the CFTR gene resulting in the pancreatic insufficient form of disease. The...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 7505092
DOI: 10.1006/bmmb.1993.1060

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.

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Linkage disequilibrium between cystic fibrosis mutations and polymorphic 4-bp repeat within CFTR gene.PMID 7505092Read ↗

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