The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.
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ABSTRACT:
SUBMITTER: Banjar H
PROVIDER: S-EPMC6372446 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
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The first case report of double homozygous of 2 different mutations in the <i>CFTR</i> gene in Saudi Arabia.
Banjar Hanaa H Moghrabi Nabil N Alotaibi Tariq T Alotaibi Sami S Gamalmaz Hisham H
International journal of pediatrics & adolescent medicine 20170216 1
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. ...[more]
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