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[波兰囊性纤维化患者中CFTR基因突变的类型和发生频率——遗传咨询和诊断筛查结果的意义]

[The type and frequency of mutations in CFTR gene occurrence in patients with cystic fibrosis in Poland--implication of results obtained from genetic counseling and diagnostic screening].

作者信息

Bal J, Maciejko D, Mazurczak T

机构信息

Zakład Genetyki Instytutu Matki i Dziecka w Warszawie.

出版信息

Pediatr Pol. 1995 Aug;70(8):627-32.

PMID:8668362
Abstract

Results of the study on mutations in the CFTR gene in Polish population were presented. Among 19 studied only 6 mutations were identified, and its frequency established. Molecular study as a routine diagnostic procedure in cystic fibrosis is proposed.

摘要

介绍了波兰人群中CFTR基因突变的研究结果。在所研究的19个样本中仅鉴定出6种突变，并确定了其频率。建议将分子研究作为囊性纤维化的常规诊断程序。

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引用本文的文献

1
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.波兰囊性纤维化患者的CFTR基因突变谱及分子诊断效率
PLoS One. 2014 Feb 26;9(2):e89094. doi: 10.1371/journal.pone.0089094. eCollection 2014.