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A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.

作者信息

Witt M, Pogorzelski A, Zebrak J, Rutkiewicz E

机构信息

Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.

出版信息

Clin Genet. 1996 Sep;50(3):149-51. doi: 10.1111/j.1399-0004.1996.tb02370.x.

DOI:10.1111/j.1399-0004.1996.tb02370.x
PMID:8946114
Abstract

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation of the CFTR gene has been identified during a molecular screening program of Polish CF families. The patient is currently a 21-year-old female with severe pulmonary involvement, mild pancreatic insufficiency and complicated gastroesophageal reflux.

摘要

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Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.五名携带621 + 1G→T突变纯合子的囊性纤维化患者的基因型-表型相关性研究
J Med Genet. 1997 Sep;34(9):788-9. doi: 10.1136/jmg.34.9.788.