OMIM: 149400Inheritance: Multiple
Classification: Diseases of the nervous system
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/Locus: |    GLRA1 |
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Dna Change: |    170-kb deletion |
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Protein Change: |    |
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Mutation Type: |    Deletion |
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Mutation Effect: |    |
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Location: |    exons 1 to 7 |
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Transcript: |    NM_001146040.1 |
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References
Sirén A, Legros B, Chahine L, Misson JP, Pandolfo M, Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.Neurology. 2006; 67(1):137-9