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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...
Autores principales: | Pinto, Louise LC, Vieira, Taiane A, Giugliani, Roberto, Schwartz, Ida VD |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889886/ https://www.ncbi.nlm.nih.gov/pubmed/20509947 http://dx.doi.org/10.1186/1750-1172-5-14 |
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