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Cystic fibrosis transmembrane conductance regulator gene mutations

机译:囊性纤维化跨膜电导调节基因突变

摘要

The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.
机译:本发明提供了与囊性纤维化或与囊性纤维化有关的病症有关的CFTR基因的新突变。还提供了用于检测突变序列的探针。进一步提供了鉴定个体是否具有在CFTR基因中包含一个或多个突变的基因型的方法。

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