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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be exp...

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Detalhes bibliográficos
Main Authors: Pinto, Louise LC, Vieira, Taiane A, Giugliani, Roberto, Schwartz, Ida VD
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2889886/
https://ncbi.nlm.nih.gov/pubmed/20509947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-5-14
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