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Journal of Clinical Investigation, ISSN 0021-9738, 02/2014, Volume 124, Issue 2, pp. 580 - 591
Journal Article
Pediatrics, ISSN 0031-4005, 2013, Volume 132, Issue 3, pp. e793 - e795
MYH9-related disease (MYH9-RD) is one of the most frequent autosomal-dominant forms of inherited macrothrombocytopenias and is caused by mutations in MYH9... 
Thrombocytopenia | MYH9-RD | Eltrombopag | Prophylaxis | thrombocytopenia | PURPURA | PEDIATRICS | MUTATIONS | eltrombopag | prophylaxis | Case studies | Reports | Care and treatment | Dosage and administration | Intervention | Blood platelets | Surgery | Ear diseases | Mutation | Hemorrhage | Children & youth
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 03/2016, Volume 7, Issue 1, p. 11097
Mg2+ plays a vital role in platelet function, but despite implications for life-threatening conditions such as stroke or myocardial infarction, the mechanisms... 
MIGRATION | MAGNESIUM | ACTOMYOSIN CONTRACTILITY | MULTIDISCIPLINARY SCIENCES | PLATELET DISORDERS | DISEASE | MEGAKARYOCYTE | MICE | MUTATIONS | KINASE TRPM7 | PROPLATELET FORMATION
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, p. e70140
Journal Article
American Journal of Hematology, ISSN 0361-8609, 06/2019, Volume 94, Issue 6, pp. 667 - 677
MYH9‐related disease (MYH9‐RD) is a rare, autosomal dominant disorder caused by mutations in MYH9, the gene encoding the actin‐activated motor protein... 
LYTIC GRANULES | F-ACTIN | ERYTHROCYTES | CRYSTAL-STRUCTURE | MACROTHROMBOCYTOPENIA | NONMUSCLE | MYH9 | ENUCLEATION | IDENTIFICATION | HEMATOLOGY | ELLIPTOCYTOSIS
Journal Article
American Journal of Hematology, ISSN 0361-8609, 02/2018, Volume 93, Issue 2, p. 195
Rare gain-of-function mutations within the ITGA2B or ITGB3 genes have been recognized to cause macrothrombocytopenia (MTP). Here we report three new families... 
Amino acids | Family | Genetic aspects | Analysis | Integrins
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 435 - 439, S1-2
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2015, Volume 169, Issue 3, pp. 239 - 250
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2016, Volume 11, Issue 9, p. e0163958
Journal Article