Nine novel L1 CAM mutations in families
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John R. MacFarlane; Jian-Sheng Du; Miriam E. Pepys; Simon Ramsden; Dian Donnai;
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Article
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1997
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John Wiley and Sons
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English
β 226 KB
π 2 views
Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual famili