V232D mutation in patients with cystic fibrosis Not so rare, not so mild

Fernandez-Lorenzo, AE; Moreno-Alvarez, A; Colon-Mejeras, C; Barros-Angueira, F; Solar-Boga, A; Sirvent-Gomez, J; Couce, ML; Leis, R

Fernandez-Lorenzo, AE (reprint author), Hosp Teresa Herrera, Dept Pediat, Xubias de Abaixo S-N, La Coruna 15006, Spain.

MEDICINE, 2018; 97 (28):

Abstract

The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing durin......

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