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Volumn 28, Issue 1, 1997, Pages 21-22

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits

Author keywords

CLN1; CLN3; CLN5; GRODs; JNCL; Linkage

Indexed keywords

ARTICLE; CHROMOSOME 13Q; CHROMOSOME 16P; CHROMOSOME 1P; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL;

EID: 8544278145     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973659     Document Type: Article
Times cited : (14)

References (8)
  • 1
    • 0015547256 scopus 로고
    • A type of cerebromacular degeneration characterised by granular osmiophilic deposits
    • Carpenter, S., G. Karpati, L. S. Wolfe, F. Andermann: A type of cerebromacular degeneration characterised by granular osmiophilic deposits. J. Neurol. Sci. 18 (1973) 67-87
    • (1973) J. Neurol. Sci. , vol.18 , pp. 67-87
    • Carpenter, S.1    Karpati, G.2    Wolfe, L.S.3    Andermann, F.4
  • 2
    • 0029048726 scopus 로고
    • Brief clinical report: Late onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits (GROD)
    • Hofman, I. L., P. E. M. Taschner: Brief clinical report: Late onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits (GROD). Am J. Med. Genet. 57 (1995) 165-167
    • (1995) Am J. Med. Genet. , vol.57 , pp. 165-167
    • Hofman, I.L.1    Taschner, P.E.M.2
  • 5
    • 0029068066 scopus 로고
    • New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy
    • Philippart, M., H. T. Chugani, J. B. Bateman: New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy. Am. J. Med. Genet. 57 (1995) 160-164
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 160-164
    • Philippart, M.1    Chugani, H.T.2    Bateman, J.B.3
  • 6
    • 0028041361 scopus 로고
    • Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
    • Savukoski, M , M. Kestila, R. Williams, I. Järvelä, J. Sharp, J. Harris, P. Santavuori, R. M. Gardiner, L. Peltonen. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am. J. Hum. Genet. 55 (1994) 695-701
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 695-701
    • Savukoski, M.1    Kestila, M.2    Williams, R.3    Järvelä, I.4    Sharp, J.5    Harris, J.6    Santavuori, P.7    Gardiner, R.M.8    Peltonen, L.9
  • 7
    • 0030028560 scopus 로고    scopus 로고
    • The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population
    • Varilo, T., M. Savukoski, R. Norio, P. Santavuori, L. Peltonen, I. Järvelä. The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am. J. Hum. Genet. 58 (1996) 506-512
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 506-512
    • Varilo, T.1    Savukoski, M.2    Norio, R.3    Santavuori, P.4    Peltonen, L.5    Järvelä, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.