Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

BACKGROUND: X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaic...

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Detalles Bibliográficos
Autores principales: Oder, Daniel, Vergho, Dorothee, Ertl, Georg, Wanner, Christoph, Nordbeck, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949769/
https://www.ncbi.nlm.nih.gov/pubmed/27431810
http://dx.doi.org/10.1186/s12881-016-0309-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949769/
https://www.ncbi.nlm.nih.gov/pubmed/27431810
http://dx.doi.org/10.1186/s12881-016-0309-z

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