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Clinical Genetics

Volumn 83, Issue 6, 2013, Pages 594-595

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

(4) Evans, D G a Bowers, N a Huson, S M b Wallace, A a

a Department of Paediatric Histopathology CMFT (United Kingdom)

b ST MARY S HOSPITAL (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE SEVERITY; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INHERITANCE; LETTER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MUTATION; MUTATION, MISSENSE; NEUROFIBROMATOSIS 2; NEUROFIBROMIN 2; PHENOTYPE; RNA SPLICE SITES; SEVERITY OF ILLNESS INDEX;

EID: 84876788840 PISSN: 00099163 EISSN: 13990004 Source Type: Journal
DOI: 10.1111/cge.12007 Document Type: Letter

Times cited : (26)

References (7)

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2
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- Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA
- Evans DGR, Ramsden RT, Shenton A et al. Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA. J Med Genet 2007: 44 (7): 424-428.
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3
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- Genotype phenotype correlations in NF2
- Evans DGR, Trueman L, Wallace A, Mason S, Strachan T. Genotype phenotype correlations in NF2. J Med Genet 1998: 35: 450-455.
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4
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- Further Genotype-phenotype Correlations in Neurofibromatosis type 2
- Selvanathan SK, Shenton A, Ferner R et al. Further Genotype-phenotype Correlations in Neurofibromatosis type 2. Clin Genet 2010: 77 (2): 163-170.
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5
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- Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset
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- Smith, M.J.¹ Higgs, J.E.² Bowers, N.L.³

6
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- A genetic study of type 2 neurofibromatosis: I Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity
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- Evans, D.G.R.¹ Huson, S.M.² Donnai, D.³

7
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.