Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene

Human Mutation

Volumn 9, Issue 4, 1997, Pages 366-367

  Hudson, J ^a   Wu, C L ^a   Tassabehji, M ^a   Summers, E M ^b   Simon, S ^b   Super, M ^b   Donnai, D ^a   Thakker, N ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CLINICAL EXAMINATION; FEMALE; GENE MUTATION; HUMAN; LENTIGO; MALE; NEUROFIBROMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; NEUROFIBROMATOSIS 1; POINT MUTATION;

EID: 0030961867     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<366::AID-HUMU12>3.0.CO;2-0     Document Type: Article

References (8)

1. Ainsworth PJ, Rodenhiser DI, Costa TM (1993) Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene. Hum Genet 91:151-156.
2. Cawthon RM, Weiss R, Xu G, Viskochil D, Weiss RB, Culver M, Stevens J, Jenkins NA, Copeland NO, White R (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure and point mutations. Cell 62: 193-201.
3. Estivill X, Lázaro C, Casals T, Ravella A (1991) Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. Hum Genet 88:185-188.
4. Horiuchi T, Hatta N, Matsumoto M, Ohtsuka H, Collins FS, Kobayashi Y, Fujita S (1994) Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese. Hum Genet 93:81-83.
5. Huson SM, Harper PS, Compston DAS (1988) Von Recklinhausen neurofibromatosis: A clinical and population based study in South East Wales. Brain 111:1355-1381.
6. Riccardi VM, Eichner, JE (1986) "Neurofibromatosis: Phenotype, Natural History and Pathogenesis." Baltimore: John Hopkins University Press.
7. Tassabehji M, Strachan T, Colley A, Sharland M, Harris R, Thakker NS (1993) Tandem duplication within a neurofibromatosis type 1 gene exon in a family with features of Watson syndrome and Noonans syndrome Am J Hum Genet 53:90-95.
8. Valero MC, Velasco E, Moreno F, Hernandez-Chico C (1994) Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). Hum Mol Genet 3:639-641.