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

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)
1 Downloads (Pure)
Original languageUndefined/Unknown
Article number28
JournalOrphanet Journal of Rare Diseases
Volume12
DOIs
Publication statusPublished - 2017

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