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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...

Topics

Asian People
Canada
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genotype
Humans
Infant, Newborn
Mutation
Registries
United Kingdom

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

United States

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Identifiers

PMID: 35857025
DOI: 10.1016/j.gim.2022.06.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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