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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| Format: | Book |
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Pediatric Neurology Briefs Publishers,
2013-11-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-27-11-7 |