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0028205150
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Identification of 5′ splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family
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The gene encoding L1, a neural adhesion molecule of the immunogiobulin family, is located on the X chromosome in mouse and human
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X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
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A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
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Molecular cloning of cell adhesion molecule L1 from human nervous tissue: A comparison of the primary sequence of L1 molecules of different origin
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Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1; two L1 isoforms in the cytoplasmic region are produced by differential splicing
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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
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A duplication in the L1CAM gene associated with X-linked hydrocephalus
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Van Camp G, Vits L, Coucke P, Lyonnet S, Schrander-Stumpel C, Darby J, Holden J, Munnich A, Willems PJ (1993) A duplication in the L1CAM gene associated with X-linked hydrocephalus. Nature Genet 4:421-425
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0028241953
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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
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Vits L, Van Camp C, Coucke P, Fransen E, Boulle KD, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, Winter RM, Schwartz C, Willems PJ (1994) MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature Genet 7:408-413
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Assignment of X-linked hydrocephalus to Xq28 by linkage analysis
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