Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

@article{Drk1992IntraAE,
  title={Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families},
  author={Thilo D{\"o}rk and Thomas Neumann and Ulrich Wulbrand and Brigitte Wulf and Nanette K{\"a}lin and G{\"u}nter Maa and Michael Krawczak and Herv{\'e} Guillermit and Claude F{\'e}rec and Glenn Horn and Katherine Klinger and Bat-sheva Kerem and Julian Zielenski and Lap-chee Tsui and Burkhard T{\"u}mmler},
  journal={Human Genetics},
  year={1992},
  volume={88},
  pages={417-425}
}
In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German nonCF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21. Novel informative… CONTINUE READING

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