Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

Mucolipidosis II (ML II) and mucolipidosis III (ML III) are diseases in which the activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent or reduced, respectively. In the absence of mannose phosphor...

Full description

Bibliographic Details
Main Author: Encarnação, Marisa (author)
Other Authors: Lacerda, Lúcia (author), Costa, Roberto (author), Prata, Maria João (author), Coutinho, Maria Francisca (author), Ribeiro, Helena (author), Lopes, Lurdes (author), Pineda, M. (author), Ignatius, J. (author), Galvez, H. (author), Mustonen, A. (author), Vieira, P. (author), Lima, Margarida Reis (author), Alves, Sandra (author)
Format: article
Language:eng
Published: 2012
Subjects:
Doenças Genéticas
Mucolipidosis II
Mucolipidosis III
Online Access:http://hdl.handle.net/10400.18/681
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/681

Internet

http://hdl.handle.net/10400.18/681

Similar Items