Unmasking the genetic heterogeneity of cystic fibrosis in the Torbat Jam region: From common variants to large deletions and the challenge of missing heritability.

Abstract excerpt

BACKGROUND: Cystic Fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The genetic spectrum of CF in Iran is highly heterogeneous due to ethnic diversity and consanguinity, particularly in the Khorasan province. Data regarding the Torbat Jam region is scarce. METHODS: We analyzed 7 unrelated patients with a clinical diagnosis of CF (sweat chloride >60 mmol/L). Genomic DNA was...

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