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Article

Extensive molecular analysis of patients bearing CFTR-related disorders.

The Journal of molecular diagnostics : JMD - 1 Jan 2012

Amato Felice, Bellia Chiara, Cardillo Giuseppe, Castaldo Giuseppe, Ciaccio Marcello, Elce Ausilia, Lembo Francesca, Tomaiuolo Rossella

Abstract excerpt

Cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients,...

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Share to Anion Transport Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cystic Fibrosis Transmembrane Conductance Regulator

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Share to Epithelial Sodium Channels

Share to Trypsin

Share to Trypsin Inhibitor, Kazal Pancreatic

Source

Identifiers

PMID: 22020151
DOI: 10.1016/j.jmoldx.2011.09.001

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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