메뉴 건너뛰기




Volumn 8, Issue 4, 1996, Pages 375-376

A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

EID: 0029850255     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)8:4<375::aid-humu14>3.0.co;2-%23     Document Type: Article
Times cited : (4)

References (15)
  • 2
    • 0028018967 scopus 로고
    • Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth Disease
    • Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL (1994) Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth Disease. Neuron 13:1253-1260.
    • (1994) Neuron , vol.13 , pp. 1253-1260
    • Bruzzone, R.1    White, T.W.2    Scherer, S.S.3    Fischbeck, K.H.4    Paul, D.L.5
  • 3
    • 0027981751 scopus 로고
    • Molecular genetics of CharcotMarie-Tooth disease and related neuropathies
    • Chance PF, Fishchbeck KH (1994) Molecular genetics of CharcotMarie-Tooth disease and related neuropathies. Hum Mol Genet 3:1503-1507.
    • (1994) Hum Mol Genet , vol.3 , pp. 1503-1507
    • Chance, P.F.1    Fishchbeck, K.H.2
  • 4
    • 0028170552 scopus 로고
    • Direct sequencing of double-stranded PCR products gel purified by centrifugation through blotting paper
    • Drebot MA, Lee SHS (1994) Direct sequencing of double-stranded PCR products gel purified by centrifugation through blotting paper. BioTechniques 17:248-250.
    • (1994) BioTechniques , vol.17 , pp. 248-250
    • Drebot, M.A.1    Lee, S.H.S.2
  • 6
    • 0026541187 scopus 로고
    • Four novel members of the connexin family of gap junction proteins: Molecular cloning, expression and chromosome mapping
    • Haefliger JA, Bruzzone R, Jenkins NA, Gilbert DJ, Copeland NG, Paul DL (1992) Four novel members of the connexin family of gap junction proteins: Molecular cloning, expression and chromosome mapping. J Biol Chem 267:2057-2064.
    • (1992) J Biol Chem , vol.267 , pp. 2057-2064
    • Haefliger, J.A.1    Bruzzone, R.2    Jenkins, N.A.3    Gilbert, D.J.4    Copeland, N.G.5    Paul, D.L.6
  • 7
    • 0020741664 scopus 로고
    • If nothing goes wrong, is everything all right? Interpreting zero numerators
    • Hanley JA, Lippman-Hand A (1983) If nothing goes wrong, is everything all right? Interpreting zero numerators. JAMA 249: 1743-1745.
    • (1983) JAMA , vol.249 , pp. 1743-1745
    • Hanley, J.A.1    Lippman-Hand, A.2
  • 8
    • 0026636987 scopus 로고
    • Molecular cloning of mouse connexins-26 and -32: Similar genomic organization but distinct promoter sequences of two gap junction genes
    • Hennemann H, Kozjek G, Dahl E, Nicholson B, Willecke K (1992) Molecular cloning of mouse connexins-26 and -32: similar genomic organization but distinct promoter sequences of two gap junction genes. Eur J Cell Biol 58:81-89.
    • (1992) Eur J Cell Biol , vol.58 , pp. 81-89
    • Hennemann, H.1    Kozjek, G.2    Dahl, E.3    Nicholson, B.4    Willecke, K.5
  • 9
    • 0028088839 scopus 로고
    • Point mutations of the connexin32 (GJB1) gene in X-linked dominant CharcotMarie-Tooth neuropathy
    • Ionasescu V, Searby C, Ionasescu R (1994) Point mutations of the connexin32 (GJB1) gene in X-linked dominant CharcotMarie-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
    • 0028847995 scopus 로고
    • Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics
    • Ionasescu W (1995) Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics. Muscle Nerve 18: 267-275.
    • (1995) Muscle Nerve , vol.18 , pp. 267-275
    • Ionasescu, W.1
  • 11
    • 0025852268 scopus 로고
    • Fabry disease in a large Nova Scotia kindred: Carrier detection using leucocyte alpha-galactosidase activity and an Ncol polymorphism detected by an alpha-galactosidase cDNA clone
    • Kirklionis AJ, Riddell DC, Spence MW. Fenwick RG (1991) Fabry disease in a large Nova Scotia kindred: Carrier detection using leucocyte alpha-galactosidase activity and an Ncol polymorphism detected by an alpha-galactosidase cDNA clone. J Med Genet 28:232-240.
    • (1991) J Med Genet , vol.28 , pp. 232-240
    • Kirklionis, A.J.1    Riddell, D.C.2    Spence, M.W.3    Fenwick, R.G.4
  • 12
    • 0028040519 scopus 로고
    • X-linked dominant Charcot-Marie-Tooth neuropathy: Valine-38-methionine substitution of connexin32
    • Orth U, Fairweather N, Exler MC, Schwinger E, Gal A (1994) X-linked dominant Charcot-Marie-Tooth neuropathy: Valine-38-methionine substitution of connexin32. Hum Mol Genet 3:1699-1700.
    • (1994) Hum Mol Genet , vol.3 , pp. 1699-1700
    • Orth, U.1    Fairweather, N.2    Exler, M.C.3    Schwinger, E.4    Gal, A.5
  • 13
    • 0022531305 scopus 로고
    • Molecular cloning of cDNA for rat liver gap junction protein
    • Paul DL (1986) Molecular cloning of cDNA for rat liver gap junction protein. J Cell Biol 103:123-134.
    • (1986) J Cell Biol , vol.103 , pp. 123-134
    • Paul, D.L.1
  • 14
    • 0029060906 scopus 로고
    • X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system
    • Spray DC, Dermietzel R (1995) X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system. Trends Neurosci 18:256-262.
    • (1995) Trends Neurosci , vol.18 , pp. 256-262
    • Spray, D.C.1    Dermietzel, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.