Six novel mutations in the neurofibromatosis type 1 (NF1) gene

Human Mutation

Volumn 10, Issue 3, 1997, Pages 248-250

  Upadhyaya, M ^a,b   Maynard, J ^a   Osborn, M ^a   Harper, P S ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b Institute of Medical Genetics   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; ASPARAGINE; DINUCLEOTIDE; DNA; GLYCINE; LEUCINE; NEUROFIBROMIN; NUCLEOTIDE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROFIBROMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

EID: 0030852527     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)10:3<248::aid-humu14>3.3.co;2-d     Document Type: Article

References (5)

1. Huson SM, Compston DAS, Clark P, Harper PS (1939) A genetic study of von Recklinghausen neurofibromatosis in South east Wales: 1. Prevalence, fitness mutation rate and effect of parental transmission on severity. J Med Genet 26:704-711.
2. Huson SM, Hughes RAC (1994) The Neurofibromatoses: A Clinical and Pathogenetic Overview. London: Chapman & Hall.
3. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D (1995) Genomic organisation of the Neurofibromatosis 1 gene (NF1). Genomics 25:9-18.
4. Upadhyaya M, Shaw DJ, Harper PS (1994) Molecular basis of Neurofibromatosis type 1 (NF1): Mutation analysis and polymorphism in the NF1 gene. Hum Mutat 4:83-101.
5. Upadhyaya M, Maynard J, Osborn M, Huson SM, Ponder M, Ponder BAJ, Harper PS (1995) Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. J Med Genet 32:706-701.