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abstractpubmed· Abstract 2017· item PMID:30805499
The first case report of double homozygous of 2 different mutations in the The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.