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Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

Bun Sheng1, Ka Fai Yim1, Lin Kiu Lau2

  • 1Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region.

Molecular Genetics and Metabolism Reports
|May 22, 2020
PubMed

Keywords:
ChineseFabry diseaseFabry nephropathyLater-onset variantNon-classic phenotype FabryVariant Fabryα-galactosidase A

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