Axonal function in a family with episodic ataxia type 2 due to a novel mutation
β Scribed by A. V. Krishnan; H. Bostock; J. Ip; M. Hayes; S. Watson; M. C. Kiernan
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 232 KB
- Volume
- 255
- Category
- Article
- ISSN
- 0340-5354
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π SIMILAR VOLUMES
## Communicated by Ulf Landegren Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease characterized clinically by severe involvement of the central and peripheral nervous system, and biochemically by complex defects in carbohydrate residues in a number of
To follow nomenclature guide. Arg70Trp ## Nucleotide change-Systematic name: Sequential no. in genomic or cDNAsequence. e.g., c1227c->T c.208C>T ## Amino acid change-Trivial name: Codon number and change. e.g., R108W