塞尔维亚患者纯合子 CFTR 突变 c.1393-1G>A 所致轻度囊性纤维化的临床表现。
Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A.
机构信息
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444A, 11010 Belgrade, Serbia.
University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia.
出版信息
J Cyst Fibros. 2014 Jan;13(1):111-3. doi: 10.1016/j.jcf.2013.07.001. Epub 2013 Aug 8.
PMID:23933162
Abstract
We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G>A mutation (legacy name 1525-1G>A).
摘要
我们报告了 1 例不常见的初诊囊性纤维化（CF）临床表现的 19 岁男性病例，以及一种罕见的 CFTR 基因型，纯合子 c.1393-1G>A 突变（旧称 1525-1G>A）。
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