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Volumn 22, Issue 1, 2012, Pages 53-54

A Chinese pedigree with an individual homozygous for CAG repeats of Huntington's disease

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; CAG REPEAT; CHINESE; CLINICAL FEATURE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NOTE; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL;

EID: 84655161604     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0b013e328347c203     Document Type: Note
Times cited : (5)

References (5)
  • 1
    • 0036626868 scopus 로고    scopus 로고
    • Homozygosity in Hungtington's disease: New ethical dilemma caused by molecular diagnosis
    • DOI 10.1034/j.1399-0004.2002.610607.x
    • Alonso ME, Yescas P, Rasmussen A, Ochoa A, Macias R, Ruiz I, et al.2002). Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis. Clin Genet 61:437-442. (Pubitemid 36372681)
    • (2002) Clinical Genetics , vol.61 , Issue.6 , pp. 437-442
    • Alonso, M.E.1    Yescas, P.2    Rasmussen, A.3    Ochoa, A.4    Macias, R.5    Ruiz, I.6    Suastegui, R.7
  • 2
    • 0028316870 scopus 로고
    • A worldwide study of the huntingtons disease mutation: The sensitivity and specificity of measuring CAG repeats
    • Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, et al.1994). A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 330:1401-1406.
    • (1994) N. Engl. J. Med. , vol.330 , pp. 1401-1406
    • Kremer, B.1    Goldberg, P.2    Andrew, S.E.3    Theilmann, J.4    Telenius, H.5    Zeisler, J.6
  • 3
    • 0344740649 scopus 로고    scopus 로고
    • Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene [4]
    • DOI 10.1046/j.1399-0004.2003.00155.x
    • Squitieri F, Almqvist EW, Cannella M, Cislaghi G, Hayden MR (2003). Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene. Clin Genet 64:524-525. (Pubitemid 37493126)
    • (2003) Clinical Genetics , vol.64 , Issue.6 , pp. 524-525
    • Squitieri, F.1    Almqvist, E.W.2    Cannella, M.3    Cislaghi, G.4    Hayden, M.R.5
  • 4
    • 0031971718 scopus 로고    scopus 로고
    • ACMG ASHG statement: Laboratory guidelines for Huntington disease genetic testing
    • The American College of Medical Genetics American Society of Human Genetics Huntington Disease Genetic Testing Working Group
    • The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group (1998). ACMG/ASHG statement: laboratory guidelines for Huntington disease genetic testing. Am J Hum Genet 62:1243-1247.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1243-1247
  • 5
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on huntingtons disease chromosomes
    • The Huntingtons Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
    • (1993) Cell. , vol.72 , pp. 971-983


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.