Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

Human Mutation

Volumn 7, Issue 2, 1996, Pages 172-175

  Perrin, G ^a   Morris, M A ^a   Antonarakis, S E ^a   Boltshauser, E ^b   Hutter, P ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NEUROFIBROMATOSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING;

EID: 0029869603     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:2<172::aid-humu15>3.0.co;2-%23     Document Type: Article

References (9)

1. Hutter P, Antonarakis SE, Delozier-Blanchet CD, Morris MA (1994) Exon skipping associated with an A to G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene. Hum Mol Genet 3: 663-665.
2. NNFF International NF1 Genetic Analysis Consortium (1994) August Newsletter.
3. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Ann Rev Biochem 55: 1119-1150.
4. Riccardi VM, Eichner JE (1988) Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore: Johns Hopkins Univ. Press.
5. Treisman R, Orkin SH, Maniatis T (1983) Specific transcription andRNA splicing defects in five cloned b-thalassaemia genes. Nature 302: 591-596.
6. Upadhyaya M, Shaw DJ, Harper PS (1994) Molecular basis of neurofibromatosis type l (NF1): Mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 4: 83-101.
7. Viskochil D, White R, Cawthon R (1993) The neurofibromatosis type 1 gene. Annu Rev Neurosci 16: 183-205.
8. Wallace MR, Marchuk DA, Anderson LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS (1990) Type I neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249: 181-186.
9. Xu G, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, White R, Weiss R, Tamanoi F (1990) The catalytic domain of the NF1 gene product stimulates ras GTPase and IRA mutants of S. cerevisiae. Cell 63: 835-841.