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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes - 31 Jan 2021

Bozdogan Sevcan Tug, Mujde Cem, Boga Ibrahim, Sonmezler Ozge, Hanta Abdullah, Rencuzogullari Cagla, Ozcan Dilek, Altintas Derya Ufuk, Bisgin Atil

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common worldwide, life-shortening multisystem hereditary disease, with an autosomal recessive inheritance pattern caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The national newborn screening (NBS) program for CF has been initiated in Turkey since 2015. If the immunoreactive trypsinogen (IRT) is elevated (higher than 70 μg/L...

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Identifiers

PMID: 33572515
DOI: 10.3390/genes12020206
PMCID: PMC7910984

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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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