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The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

Nance–Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alter...

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Detalles Bibliográficos
Autores principales: Brooks, Simon P., Coccia, Margherita, Tang, Hao R., Kanuga, Naheed, Machesky, Laura M., Bailly, Maryse, Cheetham, Michael E., Hardcastle, Alison J.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876887/
https://www.ncbi.nlm.nih.gov/pubmed/20332100
http://dx.doi.org/10.1093/hmg/ddq125