Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Andrew M ZeigerMeghan E McGarryAngel C Y MakVivian MedinaSandra SalazarCeleste EngAmy K LiuSam S OhThomas J NucktonDeepti JainThomas W BlackwellHyun Min KangGoncalo AbecasisLeandra Cordero OñateMax A SeiboldEsteban G BurchardJose Rodriguez-Santana

Published in: Pediatric pulmonology (2019)

In this first description of the CFTR variants in patients with CF from the Dominican Republic and Puerto Rico, there was a low detection rate of two CFTR variants after full sequencing with the majority of patients from the Dominican Republic without identified variants.

Keyphrases

cystic fibrosis
copy number
pseudomonas aeruginosa
lung function
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
single cell
gene expression
genome wide
dna methylation
loop mediated isothermal amplification