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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...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4949769/ https://ncbi.nlm.nih.gov/pubmed/27431810 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0309-z |
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