GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Shoshana Revel-Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V.V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert*

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

45 Scopus citations
Original languageEnglish
Pages (from-to)1851-1854
Number of pages4
Issue number17
StatePublished - 25 Oct 2018


FundersFunder number
Shell United Kingdom
National Institute for Health ResearchRG65966

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