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Volumn 22, Issue 5, 2000, Pages 413-415

Mutation detection in an equivocal case of Friedreich's ataxia

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; DNA SEQUENCE; FRIEDREICH ATAXIA; GENE MUTATION; HETEROZYGOSITY; HUMAN; POINT MUTATION; PRIORITY JOURNAL;

EID: 0034046427     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(00)00136-3     Document Type: Article
Times cited : (8)

References (11)
  • 1
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    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and interfamilial clustering of clinical features
    • Harding A.E. Friedreich's ataxia A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and interfamilial clustering of clinical features . Brain. 104:1981;589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 2
    • 0032863136 scopus 로고    scopus 로고
    • Molecular pathogenesis of Friedreich ataxia
    • Pandolfo M. Molecular pathogenesis of Friedreich ataxia. Arch Neurol. 56:1999;1201-1208.
    • (1999) Arch Neurol , vol.56 , pp. 1201-1208
    • Pandolfo, M.1
  • 3
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V., Montermini L., Molto M.D., et al. Friedreich's ataxia Autosomal recessive disease caused by an intronic GAA triplet repeat expansion . Science. 271:1996;1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 4
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Durr A., Cossee M., Agid Y., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 335:1996;1169-1175.
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Durr, A.1    Cossee, M.2    Agid, Y.3
  • 5
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
    • Filla A., De Michele G., Cavalcanti F., et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 59:1996;554-560.
    • (1996) Am J Hum Genet , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3
  • 6
    • 0344820730 scopus 로고    scopus 로고
    • Friedrech's ataxia: Point mutations and clinical presentation of compound heterozygotes
    • Cossee M., Durr A., Schmitt M., et al. Friedrech's ataxia Point mutations and clinical presentation of compound heterozygotes . Ann Neurol. 45:1999;200-206.
    • (1999) Ann Neurol , vol.45 , pp. 200-206
    • Cossee, M.1    Durr, A.2    Schmitt, M.3
  • 8
    • 0030895266 scopus 로고    scopus 로고
    • Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and GAA-triplet repeat expansion
    • Bidichandani S.I., Ashizawa T., Patel P.I. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and GAA-triplet repeat expansion. Am J Hum Genet. 60:1997;1251-1256.
    • (1997) Am J Hum Genet , vol.60 , pp. 1251-1256
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 9
    • 0031683863 scopus 로고    scopus 로고
    • Mutation of the start codon in the FRDA1 gene: Linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
    • Zuhlke C., Laccone F., Cossee M., Kohlschutter A., Koenig M., Schwinger E. Mutation of the start codon in the FRDA1 gene Linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor . Hum Genet. 103:1998;102-105.
    • (1998) Hum Genet , vol.103 , pp. 102-105
    • Zuhlke, C.1    Laccone, F.2    Cossee, M.3    Kohlschutter, A.4    Koenig, M.5    Schwinger, E.6
  • 10
    • 0032511744 scopus 로고    scopus 로고
    • Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies
    • Bartolo C., Mendell J., Prior T.W. Identification of a missense mutation in a Friedreich's ataxia patient Implications for diagnosis and carrier studies . Am J Med Genet. 79:1998;396-399.
    • (1998) Am J Med Genet , vol.79 , pp. 396-399
    • Bartolo, C.1    Mendell, J.2    Prior, T.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.