Mutation in PQBP1 is associated with periventricular heterotopia
โ Scribed by Volney L. Sheen; Alcy R. Torres; Xiang Du; Brenda Barry; Christopher A. Walsh; Virginia E. Kimonis
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 100 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Truncating and missense mutations of the __FLNA__ gene have been identified in almost 100% of families and 26% of sporadic pat
The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutation" or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein model