Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

Inherited macrothrombocytopenia (IMTP) is a rare disorder characterized by a reduced platelet count and abnormally large platelets. The main clinical symptom of IMTP is mild bleeding in some patients. At present, more than 30 genes have been identified in patients with syndromic and non-syndromic IM...

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Detalles Bibliográficos
Autores principales: Luo, Fang-Mei, Fan, Liang-Liang, Sheng, Yue, Dong, Yi, Liu, Lv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253534/
https://www.ncbi.nlm.nih.gov/pubmed/34222148
http://dx.doi.org/10.3389/fped.2021.679279

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253534/
https://www.ncbi.nlm.nih.gov/pubmed/34222148
http://dx.doi.org/10.3389/fped.2021.679279

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