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

Ulla Feldt-Rasmussen; Lis Hasholt; Martin Ballegaard; Michael Christiansen; Ian Law; Allan Lund; Anne Noerremoelle; Kirstine Ravn; Aase K. Rasmussen; Zeynep Tuemer; Henning Bundgaard; Flemming Wibrand

doi:10.1016/j.ymgme.2017.12.097

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

Ulla Feldt-Rasmussen, Lis Hasholt, Martin Ballegaard, Michael Christiansen, Ian Law, Allan Lund, Anne Noerremoelle, Kirstine Ravn, Aase K. Rasmussen, Zeynep Tuemer, Henning Bundgaard, Flemming Wibrand

Research output: Contribution to journal › Journal article › Research › peer-review

Original language	English
Journal	Molecular Genetics and Metabolism
Volume	123
Issue number	2
Pages (from-to)	S44-S44
Number of pages	1
ISSN	1096-7192
DOIs	https://doi.org/10.1016/j.ymgme.2017.12.097
Publication status	Published - Feb 2018
Event	We're Organizing Research for Lysosomal Diseases (WORLD) Symposium - San Diego, Canada Duration: 5 Feb 2018 → 9 Feb 2018

Conference

Conference	We're Organizing Research for Lysosomal Diseases (WORLD) Symposium
Country/Territory	Canada
City	San Diego
Period	05/02/2018 → 09/02/2018

Access to Document

10.1016/j.ymgme.2017.12.097

Cite this

Feldt-Rasmussen, U., Hasholt, L., Ballegaard, M., Christiansen, M., Law, I., Lund, A., Noerremoelle, A., Ravn, K., Rasmussen, A. K., Tuemer, Z., Bundgaard, H., & Wibrand, F. (2018). The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families. Molecular Genetics and Metabolism, 123(2), S44-S44. https://doi.org/10.1016/j.ymgme.2017.12.097

Feldt-Rasmussen, U , Hasholt, L , Ballegaard, M, Christiansen, M, Law, I, Lund, A, Noerremoelle, A, Ravn, K, Rasmussen, AK, Tuemer, Z, Bundgaard, H & Wibrand, F 2018, 'The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families', Molecular Genetics and Metabolism, vol. 123, no. 2, pp. S44-S44. https://doi.org/10.1016/j.ymgme.2017.12.097

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

author = "Ulla Feldt-Rasmussen and Lis Hasholt and Martin Ballegaard and Michael Christiansen and Ian Law and Allan Lund and Anne Noerremoelle and Kirstine Ravn and Rasmussen, {Aase K.} and Zeynep Tuemer and Henning Bundgaard and Flemming Wibrand",

year = "2018",

month = feb,

doi = "10.1016/j.ymgme.2017.12.097",

language = "English",

volume = "123",

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journal = "Molecular Genetics and Metabolism",

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T1 - The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families

AU - Feldt-Rasmussen, Ulla

AU - Hasholt, Lis

AU - Ballegaard, Martin

AU - Christiansen, Michael

AU - Law, Ian

AU - Lund, Allan

AU - Noerremoelle, Anne

AU - Ravn, Kirstine

AU - Rasmussen, Aase K.

AU - Tuemer, Zeynep

AU - Bundgaard, Henning

AU - Wibrand, Flemming

PY - 2018/2

Y1 - 2018/2

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DO - 10.1016/j.ymgme.2017.12.097

M3 - Journal article

SN - 1096-7192

VL - 123

SP - S44-S44

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 2

T2 - We're Organizing Research for Lysosomal Diseases (WORLD) Symposium

Y2 - 5 February 2018 through 9 February 2018

ER -