Article
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022
Vaidyanathan Sriram, Trumbull Annie M, Bar Lilly, Rao Manaeha, Yu Yunnan, Sellers Zachary M
Abstract excerpt
PURPOSE: Cystic fibrosis (CF) is not well-characterized in Asians, potentially resulting in delayed diagnosis and poor prognosis. We characterized CF in Asian subgroups to address these disparities. METHODS: De-identified ethnicity and CFTR variant data were obtained from the United States, United Kingdom, and Canadian CF registries. We measured the prevalence of CF, CFTR variant allele frequencies, effectiveness...
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