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Volumn 66, Issue 2, 1996, Pages 175-178

X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability

Author keywords

Charcot Marie Tooth disease; connexin32; interfamilial variability; X linked

Indexed keywords

GAP JUNCTION PROTEIN;

EID: 0030472328     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<175::AID-AJMG9>3.0.CO;2-Q     Document Type: Article
Times cited : (11)

References (14)
  • 1
    • 0004102539 scopus 로고
    • The genetics of neurological disorders
    • Molunsky AG, Bobrow MB, Harper PS, Scriver C (eds): 2nd ed. Oxford, U.K: Oxford University Press
    • Baraister M (1990): The genetics of neurological disorders. In Molunsky AG, Bobrow MB, Harper PS, Scriver C (eds): "Oxford Monograph on Medical Genetics." Vol. 18. 2nd ed. Oxford, U.K: Oxford University Press, pp 238-239.
    • (1990) Oxford Monograph on Medical Genetics , vol.18 , pp. 238-239
    • Baraister, M.1
  • 8
    • 0021908106 scopus 로고
    • Suggestion of linkage with a cloned DNA sequence from the proximal Xq
    • X-linked dominant Charcot-Marie-Tooth disease
    • Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH, Wienker TF: X-linked dominant Charcot-Marie-Tooth disease (1985): Suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38-42.
    • (1985) Hum Genet , vol.70 , pp. 38-42
    • Gal, A.1    Mucke, J.2    Theile, H.3    Wieacker, P.F.4    Ropers, H.H.5    Wienker, T.F.6
  • 9
    • 0028088839 scopus 로고
    • Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
    • Ionasescu V, Searby C, Ionasescu R (1994): Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3:355-358.
    • (1994) Hum Mol Genet , vol.3 , pp. 355-358
    • Ionasescu, V.1    Searby, C.2    Ionasescu, R.3
  • 10
    • 0342499587 scopus 로고
    • Strategies for multilocus linkage analysis in humans
    • Lathrop ES, Lalouel JM, Julier C, Ott J (1984): Strategies for multilocus linkage analysis in humans. PNAS 81:3443-3446.
    • (1984) PNAS , vol.81 , pp. 3443-3446
    • Lathrop, E.S.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 11
    • 0026005970 scopus 로고
    • Single gene neurological disorders in South Wales; an epidemiological study
    • MacMillan JC, Harper PS (1991): Single gene neurological disorders in South Wales; an epidemiological study. Ann Neurol 30: 411-414.
    • (1991) Ann Neurol , vol.30 , pp. 411-414
    • MacMillan, J.C.1    Harper, P.S.2
  • 13
    • 0027723256 scopus 로고
    • Intermediate nerve conduction velocities serve to define X-linked Charcot-Marie-Tooth neuropathy families
    • Nicholson G, Nash J (1993): Intermediate nerve conduction velocities serve to define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558-2564.
    • (1993) Neurology , vol.43 , pp. 2558-2564
    • Nicholson, G.1    Nash, J.2
  • 14
    • 0021848011 scopus 로고
    • Hereditary motor-sensory neuropathy (HMSN): Possible X-linked dominant inheritance
    • Phillips LH, Kelly TE, Schnatterly P, Parker D (1985): Hereditary motor-sensory neuropathy (HMSN): Possible X-linked dominant inheritance. Neurology 35:498-501.
    • (1985) Neurology , vol.35 , pp. 498-501
    • Phillips, L.H.1    Kelly, T.E.2    Schnatterly, P.3    Parker, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.