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Article

N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2007

Van Hoorenbeeck Kim, Storm Katrien, van den Ende Jenneke, Biervliet Martine, Desager Kristine N

Abstract excerpt

The CFTR genotype N1303K/IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD). We report one family consisting of five affected patients in two generations, presenting minor symptoms of CF at different ages, segregating the CFTR mutations N1303K and IVS8-T5-TG13 in trans. Common features were chronic sinopulmonary symptoms and borderline or slightly...

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Source

Identifiers

PMID: 17127107
DOI: 10.1016/j.jcf.2006.10.002

Genes

CFTR

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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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