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

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

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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). Molecul...

Topics

Aphasia
Base Pair Mismatch
DNA Mutational Analysis
Female
Fluorescence
Genetic Variation
Humans
Hydrocephalus
Intellectual Disability
Introns
Leukocyte L1 Antigen Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Membrane Glycoproteins

Movement Disorders

Mutation

Neural Cell Adhesion Molecules

Nucleic Acid Heteroduplexes

Paraplegia

Source

Open in PubMed

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9744477-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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