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Article

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Human mutation - 1 Jan 1998

Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T

Abstract excerpt

The L1CAM gene, which is located in Xq28 and codes for a neuronal cell adhesion molecule, is involved in three distinct conditions: HSAS (hydrocephalus-stenosis of the aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, adductus thumbs), and SPG1 (spastic paraplegia). Molecular analysis of the L1CAM gene is labor-intensive because of the size of the coding region, which is fragmented in...

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PMID: 9744477
DOI: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A

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