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Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.

Indian pediatrics - 15 May 2022

Bulegenova Munira, Macek Milan, Libik Malgorzata, Imangaliyeva Anara, Makhneva Anna

Abstract excerpt

OBJECTIVE: To study the frequency and spectrum of CFTR gene variants in different ethnic groups of Kazakhstan. METHODS: We reviewed the records of 58 patients with cystic fibrosis. All the patients underwent molecular genetic analysis to reveal genotype-phenotype correlations. RESULTS: The median (IQR) age of the patients was 5.4 year (7 months, 18 year); 40% were diagnosed at the age of 5-10 year. The study...

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PMID: 35273129

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