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

The L1 cell adhesion molecule (L1CAM) is a neuronal gene involved in the development of the nervous system. Mutations in L1CAM are known to cause several clinically overlapping X linked mental retardation conditions: X linked hydrocephalus (HSAS), MASA syndrome (mental retardation, aphasia, shufflin...

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Hlavní autoři: Du, Y Z, Dickerson, C, Aylsworth, A S, Schwartz, C E
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051338/
https://ncbi.nlm.nih.gov/pubmed/9643285
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