✦ LIBER ✦
A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy
✍ Scribed by Magda Montfort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 88 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Nomenclature according to HGVS recommendations.To see the corresponding traditional nomenclature for these mutations see Monfort et al., Erratum, this issue. Mutation p.S146L (not included in the Erratum) corresponds to mutation p.S107L in the traditional nomenclature. c Current age, last age reported or age at death when indicated. d Personal communication. e The allele carries the pseudogene sequence beginning from intron 4. f Age at death. g Two sibs.