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Article

c.3623G > A mutation encodes a CFTR protein with impaired channel function.

Respiratory research - 22 Jan 2016

Zhang Xiaoying, Hothi Jaspal S, Zhang Yanhui H, Srinivasan Saumini, Stokes Dennis C, Zhang Weiqiang

Abstract excerpt

BACKGROUND: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. METHODS: The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant...

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

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Source

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Identifiers

PMID: 26800689
DOI: 10.1186/s12931-016-0326-7
PMCID: PMC4724100

Genes

CFTR

Variants

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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