Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations

  title={Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations},
  author={Lee‐Jun C. Wong and {\"O}zg{\"u}l M. Alper and Bao-Tyan Wang and Mei-Hui Lee and Shin-Yu Lo},
  journal={American Journal of Medical Genetics Part A},
  • Lee‐Jun C. Wong, Özgül M. Alper, +2 authors Shin-Yu Lo
  • Published 2003
  • Medicine
  • American Journal of Medical Genetics Part A
  • Cystic fibrosis (CF; OMIM number 219700) is one of the most common and life-shortening autosomal recessive disorders in Caucasians, with an incidence of 1 in 2,500 newborns [Welsh et al., 2001]. Its incidence is significantly reduced in Asian populations (1 in 90,000) [Wright and Morton, 1968]. Little is known about the spectrum of CFTR mutations in Asians. Data from the small number of reports indicated that a potentially large pool of Asian CF mutations are novel. The commercially available… CONTINUE READING
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