Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks
C
C
Department of Medical Genetics, Box 134, Addenbrooke's Hospital, Cambridge, UK.
Baralle
D
D
Tarpey
P
P
ffrench-Constant
C
C
Bobrow
M
M
Whittaker
J
J
D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D020690:GTPase-Activating Proteins / Q000737:chemistry; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D025542:Neurofibromin 1 / Q000737:chemistry; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary
D020690:GTPase-Activating Proteins; D025542:Neurofibromin 1