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Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G > A Heterozygote CFTR: A Case Report

dos Anjos, F; Wruck, J; do Carmo, TIT; Soares, VEM; Silva, DTDE; Bagatini, MD; Maciel, SFVD

Maciel, SFVD (通讯作者),Fed Univ Fronteira Sul, Postgrad Program Biomed Sci, Rodovia SC 484 Km 02, BR-89815899 Chapeco, SC, Brazil.

CLINICAL MEDICINE & RESEARCH, 2022; 20 (1): 46

Abstract

Cystic fibrosis is a monogenic and autosomal recessive disease. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator g......

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