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
β¦ LIBER β¦
Novel L1CAM splice site mutation in a young male with L1 syndrome
β Scribed by Malin Rehnberg; Jon Jonasson; Cecilia Gunnarsson
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 77 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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