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Volumn 66, Issue 2, 1999, Pages 128-136

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy

Author keywords

Adrenoleukodystrophy; Carrier testing; Diagnostic; PCR; Peroxisome; Sequencing

Indexed keywords

DNA; FLUORESCENT DYE; MEMBRANE PROTEIN; VERY LONG CHAIN FATTY ACID;

EID: 0032813819     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2779     Document Type: Article
Times cited : (84)

References (18)
  • 1
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
    • Moser H W. Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy. Brain. 120:1997;1485-1508.
    • (1997) Brain , vol.120 , pp. 1485-1508
    • Moser, H.W.1
  • 4
    • 0032252408 scopus 로고    scopus 로고
    • First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy
    • Korenke G C, Krasemann E, Meier V, Beuche W, Hunneman D H, Hanefeld F. First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. Hum Mutat. 1:1998;S204-S206.
    • (1998) Hum Mutat , vol.1
    • Korenke, G.C.1    Krasemann, E.2    Meier, V.3    Beuche, W.4    Hunneman, D.H.5    Hanefeld, F.6
  • 5
  • 6
    • 0027978453 scopus 로고
    • Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
    • Fanen P, Guidoux S, Sarde C-O, Mandel J-L, Goossens M, Aubourg P. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest. 94:1994;516-520.
    • (1994) J Clin Invest , vol.94 , pp. 516-520
    • Fanen, P.1    Guidoux, S.2    Sarde, C.-O.3    Mandel, J.-L.4    Goossens, M.5    Aubourg, P.6
  • 8
    • 0020570623 scopus 로고
    • The identification of female carriers for adrenoleukodystrophy
    • Moser H W, Moser A B, Trojak J E, Supplee S W. The identification of female carriers for adrenoleukodystrophy. J Pediatr. 103:1983;54-59.
    • (1983) J Pediatr , vol.103 , pp. 54-59
    • Moser, H.W.1    Moser, A.B.2    Trojak, J.E.3    Supplee, S.W.4
  • 18
    • 0345093834 scopus 로고    scopus 로고
    • Highly sensitive and specific DNA sequencing: Suitable for the clinical laboratory
    • Boehm C D, Tyson H J, Chapman C M, Sanders P G, Chong S S. Highly sensitive and specific DNA sequencing: Suitable for the clinical laboratory. Am J Hum Genet. 63:1998;A226.
    • (1998) Am J Hum Genet , vol.63 , pp. 226
    • Boehm, C.D.1    Tyson, H.J.2    Chapman, C.M.3    Sanders, P.G.4    Chong, S.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.