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Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-04-04 , DOI: 10.1002/jimd.12240 Grigoris Effraimidis 1 , Åse K Rasmussen 1 , Henning Bundgaard 2 , Søren S Sørensen 3 , Ulla Feldt-Rasmussen 1
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-04-04 , DOI: 10.1002/jimd.12240 Grigoris Effraimidis 1 , Åse K Rasmussen 1 , Henning Bundgaard 2 , Søren S Sørensen 3 , Ulla Feldt-Rasmussen 1
Affiliation
The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical relevance.
中文翻译：
α-半乳糖苷酶 A 变体 p.Asp313Tyr (p.D313Y) 是否对法布里病致病？系统评价。
致病性GLA变异的鉴定在确定法布里病 (FD) 诊断中起着核心作用。我们旨在审查和解释有关 p.Asp313Tyr (p.D313Y) 变异致病性和临床相关性的已发表数据。
更新日期：2020-04-04
中文翻译：
α-半乳糖苷酶 A 变体 p.Asp313Tyr (p.D313Y) 是否对法布里病致病？系统评价。
致病性GLA变异的鉴定在确定法布里病 (FD) 诊断中起着核心作用。我们旨在审查和解释有关 p.Asp313Tyr (p.D313Y) 变异致病性和临床相关性的已发表数据。
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