A new NOTCH3 damaging variant in a thrombocytopenia family of Miao ethnic group.

Abstract excerpt

BACKGROUND: Pediatric inherited thrombocytopenia, also known as a deficiency of platelets in children, is caused by genetic factors and it is hard to obtain an effective treatment. Thus, it is necessary to identify the possible genetic variants that are responsible for thrombocytopenia. METHODS: Whole exome sequencing was used to detect genetic variants in two members of a thrombocytopenia family of Miao ethnic...

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• Share to Ethnicity
• Share to Exome Sequencing
• Share to Genetic Association Studies
• Share to Models, Molecular
• Share to Mutation, Missense
• Share to Protein Conformation
• Share to Receptor, Notch3
• Share to Thrombocytopenia