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Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease

INTRODUCTION: Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity pain, renal impairment, cardiac complications and cerebrovascul...

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Detalles Bibliográficos
Autores principales:	Wu, Yuan, Xia, Hong, Yuan, Jinzhong, Xu, Hongbo, Deng, Xiong, Liu, Jun, Zhang, Hao, Deng, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bentham Science Publishers 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817879/ https://www.ncbi.nlm.nih.gov/pubmed/29491734 http://dx.doi.org/10.2174/1389202918666170915155033

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