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Volumn 100, Issue 5-6, 1997, Pages 564-568

High-throughput analysis of Fragile X (CGG)(n) alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOMATION; BLOOD SMEAR; CAPILLARY ELECTROPHORESIS; DENMARK; DIAGNOSTIC ACCURACY; FLUORESCENCE ANALYSIS; FRAGILE X SYNDROME; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

EID: 0031411470     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050552     Document Type: Article
Times cited : (49)

References (19)
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  • 3
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    • Chiurazzi P, Kozak L, Neri G (1994) Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome. Am J Med Genet 51:517-521
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    • Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
    • Chong SS, Eichler EE, Nelson DL, Hughes MR (1994) Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526
    • (1994) Am J Med Genet , vol.51 , pp. 522-526
    • Chong, S.S.1    Eichler, E.E.2    Nelson, D.L.3    Hughes, M.R.4
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    • 0028858268 scopus 로고
    • Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots
    • Dawson AJ, Chodirker BN, Chudley AE (1995) Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med 56:63-69
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    • (1994) Am J Med Genet , vol.51 , pp. 339-345
    • Fisch, G.S.1    Nelson, D.L.2    Snow, K.3    Thibodeau, S.N.4    Chalifoux, M.5    Holden, J.J.6
  • 10
    • 0029926866 scopus 로고    scopus 로고
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    • Haddad LA, Mingroni Netto RC, Vianna Morgante AM, Pena SD (1996) A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet 97:808-812
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    • Haddad, L.A.1    Mingroni Netto, R.C.2    Vianna Morgante, A.M.3    Pena, S.D.4
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.