The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families

Autor:	Flemming Wibrand, Henning Bundgaard, Michael Christiansen, Aase Krogh Rasmussen, Martin Ballegaard, Zeynep Tuemer, Ian Law, Kirstine Ravn, Lis Hasholt, Ulla Feldt-Rasmussen, Allan M. Lund, Anne Noerremoelle
Rok vydání:	2018
Předmět:	Genetics business.industry Endocrinology Diabetes and Metabolism medicine.disease Biochemistry Fabry disease language.human_language Danish Endocrinology Gla gene language Medicine business Molecular Biology
Zdroj:	Molecular Genetics and Metabolism. 123:S44
ISSN:	1096-7192
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::97f034ea6da20d5ea6e2c205803edee2 https://doi.org/10.1016/j.ymgme.2017.12.097 Zobrazit plný text záznamu Full Text from ScienceDirect