Article
CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.
Annals of human genetics - 1 Mar 2022
Farra Chantal, Awwad Johnny, Hamadeh Lama, Khoueiry Pierre, Halawi Zeina, Yazbeck Nadine, Daher Rose, Souaid Mirna, Hamdar Layal, Yammine Tony, Yunis Khalid
Abstract excerpt
Cystic fibrosis is the most common life-limiting autosomal recessive disease in western countries with an incidence of 1:2500 in United States and 1:1000 in some European countries. Similar incidences were noted for the Middle East with variations from 1 in 2560 to 1 in 15,876 according to the degree of consanguinity. This is a preliminary systematic study that aims to assess the incidence and carrier rate of...
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