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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...

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Bibliografski detalji
Glavni autori: Kim, Dae Hun, Kim, Soo Yeon, Im, Myung, Lee, Young, Seo, Young Joon, Lee, Jeung Hoon
Format: Artigo
Jezik:Inglês
Izdano: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582937/
https://ncbi.nlm.nih.gov/pubmed/23467435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5021/ad.2013.25.1.95
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