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...

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Auteurs principaux: Venugopal, Bhuvarahamurthy , Browning, Marsha F. , Curcio-Morelli, Cyntia , Varro, Andrea , Michaud, Norman , Nanthakumar, Nanda , Walkley, Steven U. , Pickel, James , Slaugenhaupt, Susan A. 
Format: Artigo
Langue:Inglês
Publié: American Society of Human Genetics 2007
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2265643/
https://ncbi.nlm.nih.gov/pubmed/17924347
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