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Volumn 105, Issue 4, 1999, Pages 343-346

G130V, a common FRDA point mutation, appears to have arisen from a common founder

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; GUANOSINE;

EID: 0032863280     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900142     Document Type: Article
Times cited : (32)

References (13)
  • 1
    • 0030895266 scopus 로고    scopus 로고
    • Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion
    • Bidichandani SI, Ashizawa T, Patel PI (1997) Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 60:1251-1256
    • (1997) Am J Hum Genet , vol.60 , pp. 1251-1256
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 8
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589-620
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 12
    • 0026524275 scopus 로고
    • Friedreich ataxia in Louisiana Acadians: Demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes
    • Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, Mandel JL (1992) Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet 50:559-566
    • (1992) Am J Hum Genet , vol.50 , pp. 559-566
    • Sirugo, G.1    Keats, B.2    Fujita, R.3    Duclos, F.4    Purohit, K.5    Koenig, M.6    Mandel, J.L.7
  • 13
    • 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 (1998) 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 103:102-105
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.