A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).

Author:

Du Y Z,Dickerson C,Aylsworth A S,Schwartz C E

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Aberrant splicing of neural cell adhesion molecule L 1I mRNA in a family with X-linked hydrocephalus;Rosenthal, A.; Jouet, M.; Kenwrick, S.;Nat Genet,1992

2. Assignment of X-linked hydrocephalus to Xq28 by linkage analysis;Willems, P.; Dijkstra, I.; Van der Auwera, B.;Genomics,1990

3. Immunocytological and biochemical characterization of a new neuronal cell surface component (Li antigen) which is involved in cell adhesion. EMBO3;Rathjen, F.; Schachner, M.,1984

4. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the Li gene;Jouet, M.; Rosenthal, A.; Armstrong, G.;Nat Genet,1994

5. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM;Vits, L.; Van Camp, G.; Coucke, P.;Nat Genet,1994

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