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Article

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.

The Journal of pediatrics - 1 Aug 2011

Norek Aleksandra, Stremska Marta, Sobczyńska-Tomaszewska Agnieszka, Wertheim-Tysarowska Katarzyna, Dmeńska Hanna, Jurek Marta

Abstract excerpt

We identified c.1521_1523delCTT and c.1679+94_2619+986del8118 in trans in a 6-year-old boy with a severe cystic fibrosis phenotype. The first deletion was inherited maternally, but the latter had arisen de novo.

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PMID: 21663921
DOI: 10.1016/j.jpeds.2011.04.022

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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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