3. Molekulare Medizin:
Analyse von Erbkrankheiten am Beispiel der cystischen Fibrose

Gruppe 03
CT Jones, I McIntosh, M Keston, A Ferguson and DJ Brock
Human Molecular Genetics 1, 11-17 (1992)
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: 
analysis of variant splicing and a nonsense mutation
    3  Length: 524  September 2, 2005 09:41  Type: P  Check: 276  ..

       1  MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS 
      51  EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL 
     101  LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM 
     151  QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF 
     201  VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ 
     251  RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 
     301  YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV 
     351  TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF 
     401  WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER 
     451  GQLLAVAGST GAGKTSLLMM IMGELEPSEG KIKHSGRISF CSQFSWIMPG 
     501  TIKENIIFGV SYDEYRYRSV IKAX


22 Oktober 2008