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Article

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2006

Sun Weimin, Anderson Ben, Redman Joy, Milunsky Aubrey, Buller Arlene, McGinniss Matthew J, Quan Franklin, Anguiano Arturo, Huang Stephen, Hantash Feras, Strom Charles

Abstract excerpt

PURPOSE: The study's purpose was to understand the molecular basis for different clinical phenotypes of the 5T variant, a tract of 5 thymidines in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which disrupts processing of CFTR mRNA and reduces synthesis from the corresponding CFTR alleles. METHOD: We analyzed the polymorphic TG dinucleotide repeat adjacent to the 5T variant in...

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Source

Identifiers

PMID: 16778595
DOI: 10.1097/01.gim.0000223549.57443.16

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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