المؤلفون: Smolag KI; Section of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden., Fager Ferrari M; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Zetterberg E; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Leinoe E; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Ek T; Children's Cancer Center, Queen Silvia Children's Hospital, Gothenburg, Sweden., Blom AM; Section of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Martin M; Section of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden.

المصدر: Frontiers in immunology [Front Immunol] 2021 Nov 09; Vol. 12, pp. 777402. Date of Electronic Publication: 2021 Nov 09 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Heterozygote* , Mutation*, Blood Platelets/*metabolism , Complement Activation/*immunology , Multienzyme Complexes/*genetics , Thrombocytopenia/*diagnosis , Thrombocytopenia/*etiology, Adolescent ; Alleles ; Blood Platelets/immunology ; Blood Platelets/ultrastructure ; Complement System Proteins/immunology ; Complement System Proteins/metabolism ; Genetic Association Studies ; Genetic Predisposition to Disease ; Hemolysis ; Humans ; Leukocytes/metabolism ; Leukocytes/pathology ; Male ; N-Acetylneuraminic Acid/metabolism ; Phenotype ; Platelet Function Tests ; Thrombocytopenia/blood ; Whole Genome Sequencing

المؤلفون: Brøns N; nanna.broens@regionh.dk., Rossing M, Leinøe EB

المصدر: Ugeskrift for laeger [Ugeskr Laeger] 2021 Oct 18; Vol. 183 (42).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN: 1603-6824 (Electronic) Linking ISSN: 00415782 NLM ISO Abbreviation: Ugeskr Laeger Subsets: MEDLINE

مواضيع طبية MeSH: Blood Platelet Disorders*/diagnosis , Blood Platelet Disorders*/genetics , Blood Platelets*, Humans ; Whole Genome Sequencing

المؤلفون: Leinoe E; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Kjaersgaard M; Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Zetterberg E; Department of Translational Medicine, Lund University, Malmö, Sweden., Ostrowski S; Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Greinacher A; Department of Immunology and Transfusion Medicine, Greifswald University Hospital, Greifswald, Germany., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: Platelets [Platelets] 2021 May 19; Vol. 32 (4), pp. 492-497. Date of Electronic Publication: 2020 May 18.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE

مواضيع طبية MeSH: Blood Platelets/*ultrastructure , Genetic Variation/*genetics , Ikaros Transcription Factor/*metabolism, Child, Preschool ; Female ; Gene Expression Regulation ; Humans ; Middle Aged

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