Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.
Zhu
Guoming
G
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.
Ke
Xin
X
Liu
Qiji
Q
Li
Jisheng
J
Chen
Bingxi
B
Shao
Changshun
C
Gong
Yaoqin
Y
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
D053823:Hedgehog Proteins; D001224:Aspartic Acid; D001216:Asparagine