메뉴 건너뛰기




Volumn 98, Issue 3, 1996, Pages 348-350

A new polymorphism of arylsulfatase A within the coding region

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; DNA;

EID: 0029738553     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050221     Document Type: Article
Times cited : (7)

References (15)
  • 1
    • 0029121740 scopus 로고
    • Identification of seven novel mutations associated with metachromatic leukodystrophy
    • Barth ML, Fensom AH, Harris A (1995) Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum Mutat 6: 170-176
    • (1995) Hum Mutat , vol.6 , pp. 170-176
    • Barth, M.L.1    Fensom, A.H.2    Harris, A.3
  • 2
    • 0027434879 scopus 로고
    • Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations
    • Berger J, Molzer B, Gieselmann V, Bernheimer H (1993) Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. Hum Genet 92: 421-423
    • (1993) Hum Genet , vol.92 , pp. 421-423
    • Berger, J.1    Molzer, B.2    Gieselmann, V.3    Bernheimer, H.4
  • 5
    • 0016845458 scopus 로고
    • Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy
    • Dubois G, Turpin JC, Baumann N (1975) Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy. N Engl J Med 293: 302
    • (1975) N Engl J Med , vol.293 , pp. 302
    • Dubois, G.1    Turpin, J.C.2    Baumann, N.3
  • 6
    • 0026100536 scopus 로고
    • An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitate diagnosis and genetic counseling for metachromatic leukodystrophy
    • Gieselmann V (1991) An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitate diagnosis and genetic counseling for metachromatic leukodystrophy. Hum Genet 86: 251-255
    • (1991) Hum Genet , vol.86 , pp. 251-255
    • Gieselmann, V.1
  • 7
    • 0024409026 scopus 로고
    • Arylsulfatase A pseudodeficiency: Loss of a polyadenylation signal and N-glycosylation site
    • Gieselmann V, Polten A, Kreysing J, Figura K von (1989) Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation site. Proc Natl Acad Sci USA 86: 9436-9440
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9436-9440
    • Gieselmann, V.1    Polten, A.2    Kreysing, J.3    Von Figura, K.4
  • 9
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipodosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Mc Graw-Hill, New York
    • Kolodny EH, Fluharty AL (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipodosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. Mc Graw-Hill, New York, pp 2693-2739
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn , pp. 2693-2739
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 11
    • 0026713601 scopus 로고
    • Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase activity
    • Molzer B, Sundt-Heller R, Kainz-Korschinsky M, Zobel M (1992) Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase activity. Am J Med Genet 44: 523-526
    • (1992) Am J Med Genet , vol.44 , pp. 523-526
    • Molzer, B.1    Sundt-Heller, R.2    Kainz-Korschinsky, M.3    Zobel, M.4
  • 12
    • 9344227567 scopus 로고
    • Carriers of arylsulfatase A (ASA) mutations: Biochemical, molecular biological, and clinical findings
    • 16-19 Sept. 1995, Cambridge
    • Molzer B, Lugowska A, Berger J, Bernheimer H, Tylki-Szymanska A (1995) Carriers of arylsulfatase A (ASA) mutations: biochemical, molecular biological, and clinical findings. 10th ESGLD Workshop; 16-19 Sept. 1995, Cambridge
    • (1995) 10th ESGLD Workshop
    • Molzer, B.1    Lugowska, A.2    Berger, J.3    Bernheimer, H.4    Tylki-Szymanska, A.5
  • 14
    • 9344255734 scopus 로고
    • Molecular analysis of the arylsulfatase A gene in late infantile metachromatic leukodystrophy patients from Italy
    • 16-19 Sept. 1995, Cambridge
    • Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R (1995) Molecular analysis of the arylsulfatase A gene in late infantile metachromatic leukodystrophy patients from Italy. 10th ESGLD Workshop: 16-19 Sept. 1995, Cambridge
    • (1995) 10th ESGLD Workshop
    • Regis, S.1    Filocamo, M.2    Stroppiano, M.3    Corsolini, F.4    Gatti, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.