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A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

Aim: To determine the etiology of a Chinese family with thrombocytopenia by analyzing the clinical features and genetic variation. Methods: Clinical profiles and genomic DNA extracts of the family members were collected for the study. Whole exome sequencing and Sanger sequencing was used to detect t...

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Detalles Bibliográficos
Autores principales:	Che, Fengyu, Zhao, Jiangang, Zhao, Yujuan, Wang, Zhi, Zhang, Liyu, Yang, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811603/ https://www.ncbi.nlm.nih.gov/pubmed/35126455 http://dx.doi.org/10.3389/fgene.2021.783455

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