Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation

Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codo...

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Detalles Bibliográficos
Publicado en:Intern Med
Main Authors: Yamamoto, Saori, Nagasawa, Tasuku, Sugimura, Koichiro, Kanno, Atsuhiro, Tatebe, Shunsuke, Aoki, Tatsuo, Sato, Haruka, Kozu, Katsuya, Konno, Ryo, Nochioka, Kotaro, Satoh, Kimio, Shimokawa, Hiroaki
Formato: Artigo
Idioma:Inglês
Publicado: The Japanese Society of Internal Medicine 2018
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6421142/
https://ncbi.nlm.nih.gov/pubmed/30333391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.0959-18
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