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

doi:10.1182/blood-2018-04-845545

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 journal › Letter › peer-review

52 Scopus citations

Original language	English
Pages (from-to)	1851-1854
Number of pages	4
Journal	Blood
Volume	132
Issue number	17
DOIs	https://doi.org/10.1182/blood-2018-04-845545
State	Published - 25 Oct 2018
Externally published	Yes

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Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., & Lambert, M. P. (2018). GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. Blood, 132(17), 1851-1854. https://doi.org/10.1182/blood-2018-04-845545

@article{f32937b09c654c1cac58578aeb3a2377,

title = "GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting",

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

year = "2018",

month = oct,

day = "25",

doi = "10.1182/blood-2018-04-845545",

language = "אנגלית",

volume = "132",

pages = "1851--1854",

journal = "Blood",

issn = "0006-4971",

publisher = "Elsevier BV",

number = "17",

}

Revel-Vilk, S, Shai, E, Turro, E, Jahshan, N, Hi-Am, E, Spectre, G, Daum, H, Kalish, Y, Althaus, K, Greinacher, A, Kaplinsky, C, Izraeli, S, Mapeta, R, Deevi, SVV, Jarocha, D, Ouwehand, WH, Downes, K, Poncz, M, Varon, D & Lambert, MP 2018, 'GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting', Blood, vol. 132, no. 17, pp. 1851-1854. https://doi.org/10.1182/blood-2018-04-845545

TY - JOUR

T1 - GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

AU - Revel-Vilk, Shoshana

AU - Shai, Ela

AU - Turro, Ernest

AU - Jahshan, Nivin

AU - Hi-Am, Esti

AU - Spectre, Galia

AU - Daum, Hagit

AU - Kalish, Yossef

AU - Althaus, Karina

AU - Greinacher, Andreas

AU - Kaplinsky, Chaim

AU - Izraeli, Shai

AU - Mapeta, Rutendo

AU - Deevi, Sri V.V.

AU - Jarocha, Danuta

AU - Ouwehand, Willem H.

AU - Downes, Kate

AU - Poncz, Mortimer

AU - Varon, David

AU - Lambert, Michele P.

PY - 2018/10/25

Y1 - 2018/10/25

UR - https://www.scopus.com/pages/publications/85055528495

U2 - 10.1182/blood-2018-04-845545

DO - 10.1182/blood-2018-04-845545

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.letter???

C2 - 30171045

AN - SCOPUS:85055528495

SN - 0006-4971

VL - 132

SP - 1851

EP - 1854

JO - Blood

JF - Blood

IS - 17

ER -

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

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