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A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations
A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological eva...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Dermatological Association; The Korean Society for Investigative Dermatology
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582937/ https://www.ncbi.nlm.nih.gov/pubmed/23467435 http://dx.doi.org/10.5021/ad.2013.25.1.95 |