Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
Human mutation - 1 Jan 1997
MacFarlane J R, Du J S, Pepys M E, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates J R, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S
Abstract excerpt
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 families. Here, we report nine novel mutations in L1 in 10 X-linked hydrocephalus families. Four mutations truncate the L1...
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