Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report

BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean f...

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Detalles Bibliográficos
Autores principales: Chong, Yosep, Kim, Minyoung, Koh, Eun Sil, Shin, Seok Joon, Kim, Ho-Shik, Chung, Sungjin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5078899/
https://www.ncbi.nlm.nih.gov/pubmed/27776503
http://dx.doi.org/10.1186/s12881-016-0338-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5078899/
https://www.ncbi.nlm.nih.gov/pubmed/27776503
http://dx.doi.org/10.1186/s12881-016-0338-7

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