3 L138ins mutation of CFTR gene in CF patients from Russia
β Scribed by A. Radionovitch; N. Petrova; N. Kashirskaya; N. Kapranov
- Book ID
- 118640633
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 131 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1569-1993
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To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. ## Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in
## Communicated by Randy Eisensmith Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), a common autosomal recessive disease in Caucasians. The broad mutation spectrum varies among different patient groups. Current molecular diagnoses are de