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...

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Detalhes bibliográficos
Autor principal: Encarnação, Marisa (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2012
Assuntos:
Doenças Genéticas
Mucolipidosis II
Mucolipidosis III
Texto completo:http://hdl.handle.net/10400.18/681
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/681

Texto Completo

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

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