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    Detailed info

    Owner: admin Position: exon 8 HAEUID: 102
    Nucleotide change Protein change
    Traditional: 16788C>T Traditional: Arg444Cys
    HUGO: g.17970C>T HUGO: p.Arg466Cys
    CDS: c.1396C>T Effect: pathogenic
    Reference: Skriver K et al (J Biol Chem. 1989 Feb 25;264(6):3066-71.)
    Family history: unknown No. of cases: 0
    Notes: ND
    Note of admin (2003-10-15): Also described by Nielsen EW et al. (Scand J Immunol. 1998;47:273-6.) 9519866

    Note of tordai-lab (2004-03-07): Also found in 3 unrelated Hungarian families (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117)

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