@article{8453b113f7544ee48d788879a8c23dcb,
title = "The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease",
keywords = "Fabry disease, genetic variant, D313Y, genetic councelling, alpha GAL A activity",
author = "Lis Hasholt and Martin Ballegaard and Henning Bundgaard and Michael Christiansen and Ian Law and Lund, {Allan M.} and Anne Norremolle and Rasmussen, {Ase Krogh} and Kirstine Ravn and Zeynep Tumer and Flemming Wibrand and Ulla Feldt-Rasmussen",
year = "2017",
month = nov,
day = "17",
doi = "10.1080/00365513.2017.1390782",
language = "English",
volume = "77",
pages = "617--621",
journal = "Scandinavian Journal of Clinical & Laboratory Investigation",
issn = "0036-5513",
publisher = "Taylor & Francis",
number = "8",
}