A novel mutation in LICAM gene in a Japanese patient with x-linked hydrocephalus
β Scribed by Nobuhiko Okamoto; Yoshinao Wada; Hidehiko Kawabata; Satoshi Ishikiriyama; Satoru Takahashi
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 614 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1435-232X
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We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv
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