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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Venugopal, Bhuvarahamurthy , Browning, Marsha F. , Curcio-Morelli, Cyntia , Varro, Andrea , Michaud, Norman , Nanthakumar, Nanda , Walkley, Steven U. , Pickel, James , Slaugenhaupt, Susan A. 
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Human Genetics 2007
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2265643/
https://ncbi.nlm.nih.gov/pubmed/17924347
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak