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Volumn 97, Issue 3, 1996, Pages 353-356

A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus

Author keywords

[No Author keywords available]

Indexed keywords

NERVE CELL ADHESION MOLECULE;

EID: 0029671085     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185770     Document Type: Article
Times cited : (11)

References (17)
  • 3
    • 0028564732 scopus 로고
    • X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
    • Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ (1994) X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet 3:2255-2256
    • (1994) Hum Mol Genet , vol.3 , pp. 2255-2256
    • Fransen, E.1    Schrander-Stumpel, C.2    Vits, L.3    Coucke, P.4    Van Camp, G.5    Willems, P.J.6
  • 4
    • 0021346163 scopus 로고
    • X-linked mental retardation associated with bilateral clasp thumb anomaly
    • Gareis FJ, Mason JD (1984) X-linked mental retardation associated with bilateral clasp thumb anomaly. Am J Med Genet 17: 333-338
    • (1984) Am J Med Genet , vol.17 , pp. 333-338
    • Gareis, F.J.1    Mason, J.D.2
  • 8
    • 0025941720 scopus 로고
    • Molecular cloning of cell adhesion molecule L1 from human nervous tissue: A comparison of the primary sequence of L1 molecules of different origin
    • Kobayashi M, Miura M, Asou H, Uyemura K (1991) Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequence of L1 molecules of different origin. Biochim Biophys Acta 1090:238-240
    • (1991) Biochim Biophys Acta , vol.1090 , pp. 238-240
    • Kobayashi, M.1    Miura, M.2    Asou, H.3    Uyemura, K.4
  • 9
    • 0026624992 scopus 로고
    • Clasped-thumb mental retardation (MASA) syndrome: Conformation of linkage to Xq28
    • Macias VR, Day DW, King TE, Wilson GN (1992) Clasped-thumb mental retardation (MASA) syndrome: conformation of linkage to Xq28. Am J Med Genet 43:408-414
    • (1992) Am J Med Genet , vol.43 , pp. 408-414
    • Macias, V.R.1    Day, D.W.2    King, T.E.3    Wilson, G.N.4
  • 11
    • 0025814772 scopus 로고
    • Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1; two L1 isoforms in the cytoplasmic region are produced by differential splicing
    • Miura M, Kobayashi M, Asou H, Uyemura K (1991) Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1; two L1 isoforms in the cytoplasmic region are produced by differential splicing. FEBS Lett 289:91-95
    • (1991) FEBS Lett , vol.289 , pp. 91-95
    • Miura, M.1    Kobayashi, M.2    Asou, H.3    Uyemura, K.4
  • 12
    • 84970061068 scopus 로고
    • Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
    • Rosenthal A, Jouet M, Kenwrick S (1992) Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet 2: 107-112
    • (1992) Nature Genet , vol.2 , pp. 107-112
    • Rosenthal, A.1    Jouet, M.2    Kenwrick, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.