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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Yamanaka, S, Johnson, M D, Grinberg, A, Westphal, H, Crawley, J N, Taniike, M, Suzuki, K, Proia, R L
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC44940/
https://ncbi.nlm.nih.gov/pubmed/7937929
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars