Article
Validation of cystic fibrosis mutation analysis using ABI 3130XL genetic analyzer.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Mar 2007
Huang Chih-Kang, Pan Qiulu
Abstract excerpt
Cystic fibrosis (CF) is one of the most common autosomal recessive diseases in the white population, with a prevalence estimate of 1 in 2500 to 3300 live births. CF is characterized by viscous mucus in the lungs with involvement of digestive and reproductive systems as well as sweat glands (excess salt loss). Treatment for CF patients is palliative. Over 1300 mutations have been identified in the CFTR gene....
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