Open AccessG378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency
Author(s) -
Terlizzi Vito,
Centrone Claudia,
Botti Matteo,
Taccetti Giovanni
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.2033
Subject(s) - cystic fibrosis , meconium ileus , newborn screening , genotype , medicine , trypsinogen , allele , cystic fibrosis transmembrane conductance regulator , sweat test , lactase , gastroenterology , endocrinology , pregnancy , biology , pediatrics , meconium , genetics , gene , fetus , enzyme , trypsin , biochemistry