title: Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.
authors.affiliation: Key Laboratory for Experimental Teratology of the Ministry of Education and Institute of Medical Genetics, Shandong University School of Medicine, Jinan, and Department of Orthopaedics, Hospital of Weihai Economic and Technical Development Zone, China.
authors.forename: Guoming
authors.initials: G
authors.lastname: Zhu
authors.forename: Xin
authors.initials: X
authors.lastname: Ke
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
authors.forename: Jisheng
authors.initials: J
authors.lastname: Li
authors.forename: Bingxi
authors.initials: B
authors.lastname: Chen
authors.forename: Changshun
authors.initials: C
authors.lastname: Shao
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
mesh_terms: D044466:Asian People / Q000235:genetics*; D001216:Asparagine / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics*; D001483:Base Sequence; D002681:China; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
chemical_list: D053823:Hedgehog Proteins; D001224:Aspartic Acid; D001216:Asparagine