Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

Tay-Sachs disease, the prototype of the GM2 gangliosidoses, is a catastrophic neurodegenerative disorder of infancy. The disease is caused by mutations in the HEXA gene resulting in an absence of the lysosomal enzyme, beta-hexosaminidase A. As a consequence of the enzyme deficiency, GM2 ganglioside...

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Autores principales: Yamanaka, S, Johnson, M D, Grinberg, A, Westphal, H, Crawley, J N, Taniike, M, Suzuki, K, Proia, R L
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC44940/
https://ncbi.nlm.nih.gov/pubmed/7937929
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