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Clinical and mutation profile of children with cystic fibrosis in Jammu and Kashmir.

Indian pediatrics - 1 Mar 2014

Kawoosa Masarat Sultana, Bhat Mushtaq Ahmad, Ali Syed Wajid, Hafeez Imran, Shastri Shivram

Abstract excerpt

OBJECTIVE: To study the clinical and mutation profiles of children with cystic fibrosis in Jammu and Kashmir. METHODS: One hundred consecutive patients presenting with one or more phenotypic features suggestive of cystic fibrosis (CF) were screened by quantitative sweat chloride testing. For patients with positive/equivocal test result on two occasions, CFTR gene mutation analysis was done by polymerase chain...

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Identifiers

PMID: 24277965
DOI: 10.1007/s13312-014-0381-4

Genes

CFTR

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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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