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A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS)

✍ Scribed by Jouet, Monique; Rosenthal, André; MacFarlane, John; Kenwrick, Sue; Donnai, Dian


Book ID
109916638
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
117 KB
Volume
4
Category
Article
ISSN
1061-4036

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Nine novel L1 CAM mutations in families
✍ John R. MacFarlane; Jian-Sheng Du; Miriam E. Pepys; Simon Ramsden; Dian Donnai; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 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