Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
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.
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Pediatric Neurology Briefs Publishers,
2013-11-01T00:00:00Z.
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| 100 | 1 | 0 | |a J Gordon Millichap |e author |
| 245 | 0 | 0 | |a Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations |
| 260 | |b Pediatric Neurology Briefs Publishers, |c 2013-11-01T00:00:00Z. | ||
| 500 | |a 1043-3155 | ||
| 500 | |a 2166-6482 | ||
| 500 | |a 10.15844/pedneurbriefs-27-11-7 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a genotype-phenotype correlations | ||
| 690 | |a hyperekplexia | ||
| 690 | |a recurrent infantile apneas | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 690 | |a Neurology. Diseases of the nervous system | ||
| 690 | |a RC346-429 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Pediatric Neurology Briefs, Vol 27, Iss 11, Pp 86-87 (2013) | |
| 787 | 0 | |n https://www.pediatricneurologybriefs.com/articles/363 | |
| 787 | 0 | |n https://doaj.org/toc/1043-3155 | |
| 787 | 0 | |n https://doaj.org/toc/2166-6482 | |
| 856 | 4 | 1 | |u https://doaj.org/article/0b7c12de58554e8fb65d2712954ed2b6 |z Connect to this object online. |