De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura

INTRODUCTION: Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo geneti...

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Detalles Bibliográficos
Autores principales: Alharbi, Ibrahim, Alqarni, Sarah, Khayyat, Wed, Almatrafi, Amirah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8279847/
https://www.ncbi.nlm.nih.gov/pubmed/34306773
http://dx.doi.org/10.1155/2021/5516863

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