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Volumn 64, Issue 6, 1999, Pages 1632-1637

High rate of mosaicism in tuberous sclerosis complex

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GONAD; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOSAICISM; PRIORITY JOURNAL; SOMATIC MUTATION; TUBEROUS SCLEROSIS;

EID: 0033361939     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302412     Document Type: Article
Times cited : (156)

References (21)
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  • 3
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    • Berberich MS, Hall BD (1979) Penetrance and variability in tuberous sclerosis. Birth Defects 15:297-304
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  • 5
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    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • The European Chromosome 16 Tuberous Sclerosis Consortium (1993). Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
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    • Hall, J.G.1
  • 7
    • 0023097555 scopus 로고
    • Genetics of tuberous sclerosis
    • Hall JG, Byers PH (1987) Genetics of tuberous sclerosis. Lancet 1:751
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    • Hall, J.G.1    Byers, P.H.2
  • 8
    • 0031788776 scopus 로고    scopus 로고
    • Mosaicism in sporadic neurofibromatosis 2 patients
    • Kluwe L, Mautner V-F (1998) Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet 7:2051-2055
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    • Kluwe, L.1    Mautner, V.-F.2
  • 11
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    • Tuberous sclerosis in two sibs of normal parents
    • Rott HD, Fahsold R (1991) Tuberous sclerosis in two sibs of normal parents. Clin Genet 39:306-308
    • (1991) Clin Genet , vol.39 , pp. 306-308
    • Rott, H.D.1    Fahsold, R.2
  • 12
    • 0031019236 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: Neonatal deaths in three of four children of consanguineous, non-expressing parents
    • Ruggieri M, Carbonara C, Magro G, Migone N, Grasso S, Tiné A, Pavone L, et al (1997) Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. J Med Genet 34:256-260
    • (1997) J Med Genet , vol.34 , pp. 256-260
    • Ruggieri, M.1    Carbonara, C.2    Magro, G.3    Migone, N.4    Grasso, S.5    Tiné, A.6    Pavone, L.7
  • 16
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    • Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for a genotype-phenotype correlation
    • van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker L, et al (1999) Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for a genotype-phenotype correlation. J Med Genet 36:285-289
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.