“…Among them one was an homozygous substitution in the promoter region, 16 were missense mutations (p.C95S, p.C109R, p.C143Y, p.C155G, p.C216Y, p.Q254P, p.D266N, p.A391T, p.E408K, p.R416W, p.V429M, p.V523M, p.G592E, p.A606S, p.V653F, p.C711S), 2 were nonsense mutations (p.W305X, p.E317X), 3 were small deletions and insertions (c.680_681delAC, c.661_662insCCCCG, c.680_681insGGACAAATCTGA), and 2 were splice site mutations (c.313+1G>A, c.313+2T>C). The majority of these mutations have been reported before in the German population (Ebhardt et al, 1999;Nauck et al, 2001). Three of the mutations detected are novel.…”