G-HIM
1.He was like a cock who thought the sun had risen to hear him crow.-G. Eli ot
2.Result: A heterozygous mutation C to T transition at position 11 514, resulting in Thr(ACG)359 Met(ATG)substitution was identified in proband 1, the mutation was transmitted from his mother to him, a G to A transition at position 11 496 in exon 8, resulting in a heterozygous Arg(CGG) 353 Gln(CAG) polymorphism was determinated;
