Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a severe, infantile form (type I), which is fatal at <3-8 years of age, to a less severe, late-onset...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Gotoda, Y, Wakamatsu, N, Kawai, H, Nishida, Y, Matsumoto, T
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1998
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377481/
https://ncbi.nlm.nih.gov/pubmed/9758606
Etiketak: Etiketa erantsi
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