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Volumn 47, Issue 2, 1996, Pages 544-546

A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; SERINE;

EID: 0029831658     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.2.544     Document Type: Article
Times cited : (31)

References (14)
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    • 11944267671 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
    • Evans DGR, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992;29:841-846.
    • (1992) J Med Genet , vol.29 , pp. 841-846
    • Evans, D.G.R.1    Huson, S.M.2    Donnai, D.3
  • 2
    • 0029981434 scopus 로고    scopus 로고
    • The neuroimaging and clinical spectrum of neurofibromatosis 2
    • Mautner VF, Lindenau M, Baser M, et al. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 1996;38:880-886.
    • (1996) Neurosurgery , vol.38 , pp. 880-886
    • Mautner, V.F.1    Lindenau, M.2    Baser, M.3
  • 3
    • 0028837397 scopus 로고
    • Screening for germline mutations in the NF2 gene
    • Merel P, Hoang-Xuan K, Sanson M, et al. Screening for germline mutations in the NF2 gene. Genes Chrom Cancer 1995; 12:117-127.
    • (1995) Genes Chrom Cancer , vol.12 , pp. 117-127
    • Merel, P.1    Hoang-Xuan, K.2    Sanson, M.3
  • 4
  • 5
    • 0028343217 scopus 로고
    • Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
    • Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst S-M. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 1994;3:885-891.
    • (1994) Hum Mol Genet , vol.3 , pp. 885-891
    • Sainz, J.1    Huynh, D.P.2    Figueroa, K.3    Ragge, N.K.4    Baser, M.E.5    Pulst, S.-M.6
  • 6
    • 0028326668 scopus 로고
    • Exon scanning for mutation of the NF2 gene in schwannomas
    • Jacoby LB, MacCollin M, Louis DM, et al. Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 1994;3:413-419.
    • (1994) Hum Mol Genet , vol.3 , pp. 413-419
    • Jacoby, L.B.1    MacCollin, M.2    Louis, D.M.3
  • 9
    • 0030025114 scopus 로고    scopus 로고
    • A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2
    • Kluwe L, Mautner V-F. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet 1996;97:224-227.
    • (1996) Hum Genet , vol.97 , pp. 224-227
    • Kluwe, L.1    Mautner, V.-F.2
  • 11
    • 0028201083 scopus 로고
    • Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types
    • Bianchi AB, Hara T, Ramesh V, et al. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet 1994;6:185-192.
    • (1994) Nat Genet , vol.6 , pp. 185-192
    • Bianchi, A.B.1    Hara, T.2    Ramesh, V.3
  • 12
    • 0027963492 scopus 로고
    • A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
    • Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T. A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 1994;55:69-73.
    • (1994) Am J Hum Genet , vol.55 , pp. 69-73
    • Bourn, D.1    Carter, S.A.2    Evans, D.G.R.3    Goodship, J.4    Coakham, H.5    Strachan, T.6
  • 13
    • 0028945983 scopus 로고
    • A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2
    • Kluwe L, Pulst SM, Köppen J, Mautner V-F. A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2. Hum Genet 1995;4:443-446.
    • (1995) Hum Genet , vol.4 , pp. 443-446
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.