p.D313Y is more than just a polymorphism in Fabry disease

Affiliations

Comment

M du Moulin et al. Clin Genet. 2018 Jun.

. 2018 Jun;93(6):1258.

doi: 10.1111/cge.13233.

¹ Department of Pediatrics, University Children's Hospital Hamburg-Eppendorf, Hamburg, Germany.

No abstract available

Comment on

The mutation p.D313Y is associated with organ manifestation in Fabry disease.
du Moulin M, Koehn AF, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N. du Moulin M, et al. Clin Genet. 2017 Nov;92(5):528-533. doi: 10.1111/cge.13007. Epub 2017 Apr 24. Clin Genet. 2017. PMID: 28276057
The D313Y genotype-Pathogenic mutation or polymorphism?
Oder D, Wanner C, Nordbeck P. Oder D, et al. Clin Genet. 2018 Jun;93(6):1257. doi: 10.1111/cge.13237. Epub 2018 Mar 9. Clin Genet. 2018. PMID: 29521444 No abstract available.