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American Journal of Human Genetics
Volumn 59, Issue 2, 1996, Pages 331-342
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

(18)  Ruttledge, Martin H a   Andermann, Anne A a   Phelan, Catherine M a,b   Claudio, Jaime O a   Han, Fei Yu a   Chretien, Nathalie a   Rangaratnam, Shyam a   MacCollin, Mia c   Short, Priscilla c   Parry, Dilys d   Michels, Virginia e   Riccardi, Vincent M f   Weksberg, Rosanna g   Kitamura, Ken h   Bradburn, Joyce M i   Hall, Bryan D i   Propping, Peter j   Rouleau, Guy A a  

Author keywords

[No Author keywords available]
Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT;
EID: 19244362433     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (243)
References (6)
  • 1
    • 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 (1994a) 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 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
  • 2
    • 0028226739 scopus 로고
    • Germline mutations in the neurofibromatosis type 2 tumor suppressor gene
    • Bourn D, Carter SA, Mason S, Evans DGR, Strachan T (1994b) Germline mutations in the neurofibromatosis type 2 tumor suppressor gene. Hum Mol Genet 3:813-816
    • (1994) Hum Mol Genet , vol.3 , pp. 813-816
    • Bourn, D.1    Carter, S.A.2    Mason, S.3    Evans, D.G.R.4    Strachan, T.5
  • 3
    • 0019761388 scopus 로고
    • Central neurofibromatosis with bilateral acoustic neuroma
    • Eldridge R (1981) Central neurofibromatosis with bilateral acoustic neuroma. Adv Neurol 29:57-65
    • (1981) Adv Neurol , vol.29 , pp. 57-65
    • Eldridge, R.1
  • 4
    • 0005282010 scopus 로고
    • Neurofibromatosis 2: Clinical heterogeneity and natural history in 39 individuals in 9 families and 16 sporadic cases
    • Eldridge R, Parry DM, Kaiser-Kupfer MI (1991) Neurofibromatosis 2: clinical heterogeneity and natural history in 39 individuals in 9 families and 16 sporadic cases. Am J Hum Genet Suppl 49:A133
    • (1991) Am J Hum Genet Suppl , vol.49
    • Eldridge, R.1    Parry, D.M.2    Kaiser-Kupfer, M.I.3
  • 5
    • 0027080030 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counseling
    • Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Newton V, Strachen T, et al (1992a) A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counseling. J Med Genet 29:847-852
    • (1992) J Med Genet , vol.29 , pp. 847-852
    • Evans, D.G.R.1    Huson, S.M.2    Donnai, D.3    Neary, W.4    Blair, V.5    Newton, V.6    Strachen, T.7
  • 6
    • 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, Neary W, Blair V, Teare D, Newton V, et al (1992a) 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 29:841-846
    • (1992) J Med Genet , vol.29 , pp. 841-846
    • Evans, D.G.R.1    Huson, S.M.2    Donnai, D.3    Neary, W.4    Blair, V.5    Teare, D.6    Newton, V.7

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.