메뉴 건너뛰기




Volumn 6, Issue 4, 2004, Pages 285-289

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; DNA; FRATAXIN; GUANINE;

EID: 8744271324     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60523-5     Document Type: Article
Times cited : (41)

References (20)
  • 1
    • 0032145086 scopus 로고    scopus 로고
    • Molecular genetics and pathogenesis of Friedreich ataxia
    • Pandolfo M: Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscul Disord 1998, 8:409-415
    • (1998) Neuromuscul. Disord. , vol.8 , pp. 409-415
    • Pandolfo, M.1
  • 2
    • 0016734732 scopus 로고
    • Friedreich's ataxia in Western Norway
    • Skre H: Friedreich's ataxia in Western Norway. Clin Genet 1975, 7:287-298
    • (1975) Clin. Genet. , vol.7 , pp. 287-298
    • Skre, H.1
  • 6
    • 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: 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 1981, 104:589-620
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 15
    • 0033054333 scopus 로고    scopus 로고
    • Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat
    • Poirier J, Ohshima K, Pandolfo M: Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat. Hum Mutat 1999, 13:328-330
    • (1999) Hum. Mutat. , vol.13 , pp. 328-330
    • Poirier, J.1    Ohshima, K.2    Pandolfo, M.3
  • 18
    • 8744229018 scopus 로고    scopus 로고
    • Detection of large (GAA)n repeat expansions by fluorescent PCR
    • Poster Presented at European Society of Human Genetics, Amsterdam 2000
    • Schmitt M, Warner J, Barron L, Mandel J, Koenig M: Detection of large (GAA)n repeat expansions by fluorescent PCR. Eur J Hum Genet 2000, 8(Suppl 1): Poster Presented at European Society of Human Genetics, Amsterdam, 2000
    • (2000) Eur. J. Hum. Genet. , vol.8 , Issue.SUPPL. 1
    • Schmitt, M.1    Warner, J.2    Barron, L.3    Mandel, J.4    Koenig, M.5
  • 19
    • 8744268313 scopus 로고    scopus 로고
    • A simple, fast, low-cost screening method for the detection of (GAA)n repeat expansions in Friedreich's ataxia
    • Georghiou A, Tsingis M, Christodoulou K: A simple, fast, low-cost screening method for the detection of (GAA)n repeat expansions in Friedreich's ataxia. Eur J Hum Genet 2001, 9(Suppl 1):303
    • (2001) Eur. J. Hum. Genet. , vol.9 , Issue.SUPPL. 1 , pp. 303
    • Georghiou, A.1    Tsingis, M.2    Christodoulou, K.3
  • 20
    • 8744230759 scopus 로고    scopus 로고
    • Analysis of FRDA patients with interrupted GAA expansions in the frataxin gene by fluorescent triplet primed PCR
    • Cossée M, Schmitt M, Meikatt E, Mandel JL, Koenig M: Analysis of FRDA patients with interrupted GAA expansions in the frataxin gene by fluorescent triplet primed PCR. Eur J Hum Genet 2001, 9(Suppl):403
    • (2001) Eur. J. Hum. Genet. , vol.9 , Issue.SUPPL. , pp. 403
    • Cossée, M.1    Schmitt, M.2    Meikatt, E.3    Mandel, J.L.4    Koenig, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.