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Article

Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2015

Salinas Danieli Barino, Sosnay Patrick R, Azen Colleen, Young Suzanne, Raraigh Karen S, Keens Thomas G, Kharrazi Martin

Abstract excerpt

BACKGROUND: The Clinical and Functional Translation of CFTR project (CFTR2) classified some cystic fibrosis transmembrane conductance regulator (CFTR) gene variants as non-cystic fibrosis (CF)-causing. To evaluate this, the clinical status of children carrying these mutations was examined. METHODS: We analyzed CF disease-defining variables over 2-6 years in two groups of California CF screen- positive neonates...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25824995
DOI: 10.1016/j.jcf.2015.03.006
PMCID: PMC4587349

Genes

CFTR

Provenance

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