A novel frameshift mutation of theNF1gene in a Chinese pedigree with neurofibromatosis type 1.
Department of Dermatology, Xuanwu Hospital, Capital Medical University, Xuanwu District, Beijing 100053, China.
Xuefei
X
Lin
Department of Dermatology, Xuanwu Hospital, Capital Medical University, Xuanwu District, Beijing 100053, China.
Hui
H
Chen
Department of Dermatology, Xuanwu Hospital, Capital Medical University, Xuanwu District, Beijing 100053, China.
Wei
W
Zhu
Department of Dermatology, Xuanwu Hospital, Capital Medical University, Xuanwu District, Beijing 100053, China.
Shi
S
Lian
D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1 / Q000502:physiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree