Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

M Tarailo-Graovac; BI Drogemoller; WW Wasserman; CJD Ross; Ans van den Ouweland; N Darin; G Kollberg; CDM van Karnebeek; M Blomqvist

doi:10.1186/s13023-017-0584-6

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

M Tarailo-Graovac, BI Drogemoller, WW Wasserman, CJD Ross, Ans van den Ouweland, N Darin, G Kollberg, CDM van Karnebeek, M Blomqvist

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

9 Citations (Scopus)

1 Downloads (Pure)

Original language	Undefined/Unknown
Article number	28
Journal	Orphanet Journal of Rare Diseases
Volume	12
DOIs	https://doi.org/10.1186/s13023-017-0584-6
Publication status	Published - 2017

Access to Document

10.1186/s13023-017-0584-6

REPUB_97905_OA.pdfFinal published version, 0.98 MB

http://hdl.handle.net/1765/97905

Cite this

@article{b784a33da9294753ad5608250489aceb,

title = "Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease",

author = "M Tarailo-Graovac and BI Drogemoller and WW Wasserman and CJD Ross and {van den Ouweland}, Ans and N Darin and G Kollberg and {van Karnebeek}, CDM and M Blomqvist",

year = "2017",

doi = "10.1186/s13023-017-0584-6",

language = "Undefined/Unknown",

volume = "12",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central Ltd.",

}

TY - JOUR

T1 - Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

AU - Tarailo-Graovac, M

AU - Drogemoller, BI

AU - Wasserman, WW

AU - Ross, CJD

AU - van den Ouweland, Ans

AU - Darin, N

AU - Kollberg, G

AU - van Karnebeek, CDM

AU - Blomqvist, M

PY - 2017

Y1 - 2017

U2 - 10.1186/s13023-017-0584-6

DO - 10.1186/s13023-017-0584-6

M3 - Article

VL - 12

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 28

ER -