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CRASH Syndrome: Mutations in L1CAM Correlate with Severity of the Disease
X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). As a result, these syndromes have recently been reclassified as CRASH syndrome, a...
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Main Authors: | , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
1997
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1563987/ https://ncbi.nlm.nih.gov/pubmed/9266556 |
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