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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kim, Dae Hun, Kim, Soo Yeon, Im, Myung, Lee, Young, Seo, Young Joon, Lee, Jeung Hoon
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2013
Gaiak:
Sarrera elektronikoa: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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