Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV

Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene, which encodes the 65-kDa protein mucolipin-1. The most common clinical features of patients with MLIV include severe mental retardation, delayed motor milestones, ophthalmologic...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Venugopal, Bhuvarahamurthy , Browning, Marsha F. , Curcio-Morelli, Cyntia , Varro, Andrea , Michaud, Norman , Nanthakumar, Nanda , Walkley, Steven U. , Pickel, James , Slaugenhaupt, Susan A. 
Format: Artigo
Idioma:Inglês
Publicat: American Society of Human Genetics 2007
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2265643/
https://ncbi.nlm.nih.gov/pubmed/17924347
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars