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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2016
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| Materias: | |
| 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 |