波兰囊性纤维化患者CF基因第11外显子的突变频率。
The frequency of mutations in exon 11 of the CF gene in Polish cystic fibrosis patients.
作者信息
Bal J, Mazurczak T, Reiss J
机构信息
National Research Institute of Mother and Child, Department of Genetics, Warsaw, Poland.
出版信息
Acta Biochim Pol. 1992;39(3):245-9.
PMID:1485486
Abstract
Results of mutation analysis in exon 11 of the CF gene have been presented. Using the SSCP technique 18 mutations (of four different types) were detected in cystic fibrosis patients of Polish origin. Thus, we were able to detect in exon 11 about 10% of all CF mutations occurring in the affected population examined.
摘要
已公布了CF基因第11外显子的突变分析结果。使用SSCP技术，在波兰裔囊性纤维化患者中检测到18种（四种不同类型）突变。因此，我们能够在第11外显子中检测到在所研究的受影响人群中发生的所有CF突变的约10%。
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