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Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of...

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Detalles Bibliográficos
Autores principales:	Kim, Ji-Hoon, Kim, Gee-Hee, Park, Hoon-Suk, Choi, Jin-A, Bae, Jung-Min, Cho, Uiju
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society of Cardiology 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378036/ https://www.ncbi.nlm.nih.gov/pubmed/28382085 http://dx.doi.org/10.4070/kcj.2016.0321

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