메뉴 건너뛰기




Volumn 1, Issue 3, 1998, Pages 217-222

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

Author keywords

Chromosome localization; CLN2 gene; CLN6 gene; Late infantile neuronal ceroid lipofuscinosis

Indexed keywords

DNA; MICROSATELLITE DNA; PEPTIDE HYDROLASE; PROTEINASE; TRIPEPTIDYL PEPTIDASE I; TRIPEPTIDYL-PEPTIDASE I;

EID: 0032008695     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050032     Document Type: Article
Times cited : (21)

References (30)
  • 1
    • 0029682352 scopus 로고    scopus 로고
    • Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage disease
    • Prasad A, Kaye EM, Alroy J (1996) Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage disease. J Child Neurol 11:301-308
    • (1996) J Child Neurol , vol.11 , pp. 301-308
    • Prasad, A.1    Kaye, E.M.2    Alroy, J.3
  • 2
    • 0024219698 scopus 로고
    • Batten disease: Past, present, and future
    • Rider JA, Rider DL (1988) Batten disease: past, present, and future. Am J Med Genet 5:21-26
    • (1988) Am J Med Genet , vol.5 , pp. 21-26
    • Rider, J.A.1    Rider, D.L.2
  • 4
    • 0029153109 scopus 로고
    • Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
    • Vesa J, Hellsten E, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-586
    • (1995) Nature , vol.376 , pp. 584-586
    • Vesa, J.1    Hellsten, E.2    Camp, L.A.3    Rapola, J.4    Santavuori, P.5    Hofmann, S.L.6    Peltonen, L.7
  • 7
    • 0029147298 scopus 로고
    • Isolation of a novel gene underlying Batten disease
    • International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease. Cell 82:949-957
    • (1995) Cell , vol.82 , pp. 949-957
  • 13
    • 0028041361 scopus 로고
    • Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis
    • Savukoski M, Kestila M, Williams R, Jarvelã I, Sharp J, Harris J, Santavuori P, Gardiner RM, Peltonen L (1994) Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis. Am J Hum Genet 55:695-701
    • (1994) Am J Hum Genet , vol.55 , pp. 695-701
    • Savukoski, M.1    Kestila, M.2    Williams, R.3    Jarvelã, I.4    Sharp, J.5    Harris, J.6    Santavuori, P.7    Gardiner, R.M.8    Peltonen, L.9
  • 15
    • 0017887981 scopus 로고
    • Early juvenile Batten's disease - A recognisable subgroup distinct from other forms of Batten's disease
    • Lake BD, Cavanagh NBC (1978) Early juvenile Batten's disease - a recognisable subgroup distinct from other forms of Batten's disease. J Neurol Sci 36:265-271
    • (1978) J Neurol Sci , vol.36 , pp. 265-271
    • Lake, B.D.1    Cavanagh, N.B.C.2
  • 16
    • 0026048547 scopus 로고
    • Infantile neuronal ceroid lipofuscinosis (CLN1): Linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a non-allelic locus
    • Järvelä I (1991) Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a non-allelic locus. Genomics 10:33-337
    • (1991) Genomics , vol.10 , pp. 33-337
    • Järvelä, I.1
  • 21
    • 0024251647 scopus 로고
    • Clinical classification of neuronal ceroid lipofuscinosis subtypes
    • Boustany R-M, Alroy J, Kolodny E (1988) Clinical classification of neuronal ceroid lipofuscinosis subtypes. Am J Med Genet Suppl 5:47-58
    • (1988) Am J Med Genet Suppl , vol.5 , pp. 47-58
    • Boustany, R.-M.1    Alroy, J.2    Kolodny, E.3
  • 22
    • 0021688283 scopus 로고
    • Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
    • Anderson MA, Gusella JF (1984) Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 20:856-858
    • (1984) In Vitro , vol.20 , pp. 856-858
    • Anderson, M.A.1    Gusella, J.F.2
  • 23
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 24
    • 0002303695 scopus 로고    scopus 로고
    • PCR methods of genotyping
    • Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR (eds) Wiley, New York
    • Hudson TJ, Clark CD, Geschwend M, Justice-Higgins E (1998). PCR methods of genotyping. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR (eds) Current protocols in human genetics, unit 2.5. Wiley, New York pp. 2.5.1-2.5.23.
    • (1998) Current Protocols in Human Genetics, Unit 2.5
    • Hudson, T.J.1    Clark, C.D.2    Geschwend, M.3    Justice-Higgins, E.4
  • 26
    • 0028790963 scopus 로고
    • The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance
    • O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11:402-408
    • (1995) Nat Genet , vol.11 , pp. 402-408
    • O'Connell, J.R.1    Weeks, D.E.2
  • 28
    • 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, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I (1996) The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet 58:506-512
    • (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
  • 30
    • 0030866233 scopus 로고    scopus 로고
    • Association of mutations in a lysosomal protein with classical late-infantile neuronalceroid lipofuscinosis
    • Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronalceroid lipofuscinosis. Science 277:1802-1805
    • (1997) Science , vol.277 , pp. 1802-1805
    • Sleat, D.E.1    Donnelly, R.J.2    Lackland, H.3    Liu, C.G.4    Sohar, I.5    Pullarkat, R.K.6    Lobel, P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.