About
Site Map
Contact Us
Search
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genes
>
L1CAM
>
References
These sources were used to develop the Genetics Home Reference
gene summary
on the
L1CAM
gene.
Entrez
Gene
Finckh U, Schröder J, Ressler B, Veske A, Gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet. 2000 May 1;92(1):40-6.
PubMed citation
Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Hum Mutat. 2004 May;23(5):526.
PubMed citation
Kenwrick S, Watkins A, De Angelis E. Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Genet. 2000 Apr 12;9(6):879-86. Review.
PubMed citation
OMIM:
L1 CELL ADHESION
MOLECULE
Panicker AK, Buhusi M, Thelen K, Maness PF. Cellular signalling mechanisms of neural cell adhesion molecules. Front Biosci. 2003 May 1;8:d900-11. Review.
PubMed citation
Weller S, Gärtner J. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. Review.
PubMed citation
Reviewed: March 2008
Published: May 20, 2013