Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.
Zhong
J
J
Institute of Medical Genetics, University of Zurich, Switzerland.
Spiegel
R
R
Boltshauser
E
E
Schmid
W
W
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
D004247:DNA