The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

Lis Hasholt; Martin Ballegaard; Henning Bundgaard; Michael Christiansen; Ian Law; Allan M. Lund; Anne Norremolle; Ase Krogh Rasmussen; Kirstine Ravn; Zeynep Tumer; Flemming Wibrand; Ulla Feldt-Rasmussen

doi:10.1080/00365513.2017.1390782

The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

Lis Hasholt, Martin Ballegaard, Henning Bundgaard, Michael Christiansen, Ian Law, Allan M. Lund, Anne Norremolle, Ase Krogh Rasmussen, Kirstine Ravn, Zeynep Tumer, Flemming Wibrand, Ulla Feldt-Rasmussen

8 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Scandinavian Journal of Clinical & Laboratory Investigation
Vol/bind	77
Udgave nummer	8
Sider (fra-til)	617-621
ISSN	0036-5513
DOI	https://doi.org/10.1080/00365513.2017.1390782
Status	Udgivet - 17 nov. 2017

Adgang til dokumentet

10.1080/00365513.2017.1390782

Citationsformater

Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Rasmussen, A. K., Ravn, K., Tumer, Z., Wibrand, F., & Feldt-Rasmussen, U. (2017). The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease. Scandinavian Journal of Clinical & Laboratory Investigation, 77(8), 617-621. https://doi.org/10.1080/00365513.2017.1390782

Hasholt, L, Ballegaard, M, Bundgaard, H, Christiansen, M, Law, I, Lund, AM, Norremolle, A, Rasmussen, AK, Ravn, K, Tumer, Z, Wibrand, F & Feldt-Rasmussen, U 2017, 'The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease', Scandinavian Journal of Clinical & Laboratory Investigation, bind 77, nr. 8, s. 617-621. https://doi.org/10.1080/00365513.2017.1390782

@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",

}

TY - JOUR

T1 - The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

AU - Hasholt, Lis

AU - Ballegaard, Martin

AU - Bundgaard, Henning

AU - Christiansen, Michael

AU - Law, Ian

AU - Lund, Allan M.

AU - Norremolle, Anne

AU - Rasmussen, Ase Krogh

AU - Ravn, Kirstine

AU - Tumer, Zeynep

AU - Wibrand, Flemming

AU - Feldt-Rasmussen, Ulla

PY - 2017/11/17

Y1 - 2017/11/17

KW - Fabry disease

KW - genetic variant

KW - D313Y

KW - genetic councelling

KW - alpha GAL A activity

U2 - 10.1080/00365513.2017.1390782

DO - 10.1080/00365513.2017.1390782

M3 - Journal article

C2 - 29037082

SN - 0036-5513

VL - 77

SP - 617

EP - 621

JO - Scandinavian Journal of Clinical & Laboratory Investigation

JF - Scandinavian Journal of Clinical & Laboratory Investigation

IS - 8

ER -

The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

Adgang til dokumentet

Fingeraftryk

Citationsformater