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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Detalles Bibliográficos
Autores principales: Pinto, Louise LC, Vieira, Taiane A, Giugliani, Roberto, Schwartz, Ida VD
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Review
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

Internet

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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