Published 2013
| Version v1.0.0
Journal Article
Open
Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
Creators
Abstract
Investigators at Swansea University and other centers in the UK, Australia, and Belgium studied the genotype-phenotype correlations in 97 individuals with a clinical diagnosis of hyperekplexia; 61 cases had mutations in GLRA1, 24 cases in SLC6A5 and 12 in GLRB.Files
PNB-2013-27-11-7.pdf
Files
(100.0 kB)
| Name | Size | Download all |
|---|---|---|
|
md5:d5eb2f1c0ccc097cfb82c9e6abac6ac4
|
100.0 kB | Preview Download |
Additional details
Identifiers
- Other
- PNB-2013-27-11-7
Dates
- Created
-
2013When the item was originally created.