CYSTIC FIBROSIS D1152H

Test Name

CYSTIC FIBROSIS D1152H

About test

D1152H is a type IV cystic fibrosis transmembrane regulator (CFTR) mutation associated with abnormal chloride gating. Although comprising 5-6% of mutations on genetic screening, clinical reports of cystic fibrosis (CF) are rare, suggesting that the disease is mild, atypical, or even absent.

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