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

Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually refe...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Sheng, Bun, Yim, Ka Fai, Lau, Lin Kiu, Lee, Han Chih Hencher, Fung, Ka Shun Samuel, Ma, Ka Fai Johnny, Chak, Wai Leung
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229279/
https://ncbi.nlm.nih.gov/pubmed/32435590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100596
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