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Volumn 64, Issue 4, 1999, Pages 986-992

Germ-line mosaicism in tuberous sclerosis: How common?

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENETIC COUNSELING; GENETIC LINKAGE; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

EID: 0033358599     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302322     Document Type: Article
Times cited : (84)

References (22)
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    • Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42:237-248
    • (1988) Am J Hum Genet , vol.42 , pp. 237-248
    • Byers, P.H.1    Tsipouras, P.2    Bonadio, J.F.3    Starman, B.J.4    Schwartz, R.C.5
  • 4
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    • The population genetics of Duchenne: Natural and artificial selection in Duchenne muscular dystrophy
    • Edwards JH (1986) The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy. J Med Genet 23:521-530
    • (1986) J Med Genet , vol.23 , pp. 521-530
    • Edwards, J.H.1
  • 5
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium, The (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 6
    • 0025864035 scopus 로고
    • Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria
    • Gomez MR (1991) Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann N Y Acad Sci 615:1-7
    • (1991) Ann N Y Acad Sci , vol.615 , pp. 1-7
    • Gomez, M.R.1
  • 7
    • 0023754181 scopus 로고
    • Somatic mosaicism: Observations related to clinical genetics
    • Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43:355-363
    • (1988) Am J Hum Genet , vol.43 , pp. 355-363
    • Hall, J.G.1
  • 8
    • 0031914368 scopus 로고    scopus 로고
    • Differential amplification kinetics for point mutation analysis by PCR
    • Kaltenbock B, Schneider R (1998) Differential amplification kinetics for point mutation analysis by PCR. Biotechniques 24:202-204, 206
    • (1998) Biotechniques , vol.24 , pp. 202-204
    • Kaltenbock, B.1    Schneider, R.2
  • 9
    • 0028779847 scopus 로고
    • Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father
    • Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X (1994) Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407
    • (1994) N Engl J Med , vol.331 , pp. 1403-1407
    • Lazaro, C.1    Ravella, A.2    Gaona, A.3    Volpini, V.4    Estivill, X.5
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    • Tuberous sclerosis complex: Neonatal deaths in three of four children of consanguineous, non-expressing parents
    • Ruggieri M, Carbonare C, Magro G, Migone N, Grasso S, Tine 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    Carbonare, C.2    Magro, G.3    Migone, N.4    Grasso, S.5    Tine, A.6    Pavone, L.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.