Article
SERPINA1 Z allele is associated with cystic fibrosis liver disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2019
Boëlle Pierre-Yves, Debray Dominique, Guillot Loic, Corvol Harriet
Abstract excerpt
PURPOSE: The SERPINA1 Z allele is associated with cystic fibrosis (CF)-related liver disease (CFLD), a common manifestation in patients with CF. We estimated CFLD incidence based on the SERPINA1 genotype in 3328 CF patients with CFLD-phenotype information. METHODS: The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe...
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