医学
囊性纤维化
巴特综合征
突变
代谢性碱中毒
胰腺
内科学
儿科
病理
重症监护医学
胃肠病学
低钾血症
遗传学
基因
生物
作者
Atqah Abdul Wahab,Ibrahim Janahi,M. M. Marafia
标识
DOI:10.1093/tropej/50.4.242
摘要
An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alkalosis, electrolyte disturbance, and pancreas insufficiency. We emphasized the need to consider the possibility of cystic fibrosis (CF) in the Arab world. The frequency of N1303K mutation in the Middle East and its distribution are both reviewed.
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