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Article

Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2012

Uppaluri L, England S J, Scanlin T F

Abstract excerpt

BACKGROUND: Cystic Fibrosis (CF) genotypes in South Asians are variable with a decreased incidence of Delta F508 and an increased incidence of novel mutations. The objective of this study is to provide clinical evidence that V456A, a novel mutation in South Asian Cystic Fibrosis patients, can cause significant lung disease. METHODS: We extracted clinical data from a retrospective chart review of 2 CF patients of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22395041
DOI: 10.1016/j.jcf.2012.02.001

Genes

FEV
CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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