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Article

A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.

Gene - 10 Apr 2012

Diana Anna, Tesse Riccardina, Polizzi Angela M, Santostasi Teresa, Manca Antonio, Leonetti Giuseppina, Seia Manuela, Porcaro Luigi, Cavallo Luciano

Abstract excerpt

We report the case of a patient with an apparent homozygosity for the D1152H mutation located in exon 18 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The parents had no personal history of cystic fibrosis (CF) and referred to our laboratory after the diagnosis of fetal bowel hyperechogenicity. The proband presented with meconium ileus and normal sweat chloride test. Sequencing of the...

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Source

Identifiers

PMID: 22310382
DOI: 10.1016/j.gene.2012.01.061

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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