Spectrum of mutations in alpha-mannosidosis.

alpha-Mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). The resulting intracellular accumulation of mannose-containing oligosaccharides leads to mental retardation, hearing impairment, skeletal changes, and immunodeficiency. Recently, we rep...

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Bibliografiske detaljer
Main Authors: Berg, T, Riise, H M, Hansen, G M, Malm, D, Tranebjaerg, L, Tollersrud, O K, Nilssen, O
Format: Artigo
Sprog:Inglês
Udgivet: 1999
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377705/
https://ncbi.nlm.nih.gov/pubmed/9915946
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