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Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.

作者信息

Wagner K, Zach M, Rosenkranz W

机构信息

Institut für Medizinische Biologie und Humangenetik Universität, Graz, Austria.

出版信息

Hum Genet. 1992 Jun;89(4):437-8. doi: 10.1007/BF00194318.

DOI:10.1007/BF00194318
PMID:1377659
Abstract

The frequency of the major mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was analyzed for 113 Austrian cystic fibrosis (CF) patients. An overall frequency of 55% for delta F508 was found with values of 72% and 13% for patients with pancreatic insufficiency (CF-PI) and those with pancreatic sufficiency (CF-PS), respectively. Furthermore, the distribution of the alleles of the closely linked DNA markers XV2c/KM19/MP6d-9 in our families is described.

摘要

相似文献

1
Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.
Hum Genet. 1992 Jun;89(4):437-8. doi: 10.1007/BF00194318.
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2
Frequency of delta F508 mutation and haplotype analysis in Austrian cystic fibrosis families.奥地利囊性纤维化家族中ΔF508突变的频率及单倍型分析
Hum Genet. 1992 Jun;89(4):464-5. doi: 10.1007/BF00194327.

本文引用的文献

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