Familial platelet disorder due to germline exonic deletions in

Blood Platelet Disorders / complications Core Binding Factor Alpha 2 Subunit / genetics Exons Germ Cells / metabolism Humans Leukemia, Myeloid, Acute / genetics Protein Isoforms / genetics
FPD/MM RUNX1 deletions leukemia thrombocytopenia

Journal

Leukemia & lymphoma
ISSN: 1029-2403
Titre abrégé: Leuk Lymphoma
Pays: United States
ID NLM: 9007422

Informations de publication

Date de publication:
Oct 2022
Historique:
pubmed: 10 5 2022
medline: 12 10 2022
entrez: 9 5 2022
Statut: ppublish

Résumé

Germline pathogenic variants in

Identifiants

DOI: 10.1080/10428194.2022.2067997 PMID: 35533071
pubmed: 35533071
doi: 10.1080/10428194.2022.2067997
doi:

Substances chimiques

Core Binding Factor Alpha 2 Subunit 0
Protein Isoforms 0
RUNX1 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2311-2320

Auteurs

Marie Engvall (M)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
ORCID: 0000-0002-7394-9191

Ylva Karlsson (Y)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Ekaterina Kuchinskaya (E)

Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.

Åsa Jörnegren (Å)

Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.

Lucy Mathot (L)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Tatjana Pandzic (T)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Josefine Palle (J)

Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.

Viktor Ljungström (V)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Lucia Cavelier (L)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Eva Hellström Lindberg (E)

Department of Medicine, Division of Hematology, Huddinge, Karolinska University Hospital, Stockholm, Sweden.
Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.

Jörg Cammenga (J)

Department of Hematology, Linköping University Hospital, Linköping, Sweden.
Department of Molecular Medicine and Virology (MMV), Division of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden.

Panagiotis Baliakas (P)

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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Classifications MeSH

questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Anomalies des plaquettes › Familial platelet disorder due to germline...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription CBF › Sous-unités alpha du facteur CBF › Sous-unité alpha 2 du facteur CBF › Familial platelet disorder due to germline...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › Familial platelet disorder due to germline...
questionsmedicales.fr › Cellules › Cellules germinales › Familial platelet disorder due to germline...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Familial platelet disorder due to germline...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Leucémies › Leucémie myéloïde › Leucémie aigüe myéloïde › Familial platelet disorder due to germline...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Isoformes de protéines › Familial platelet disorder due to germline...