DNA repair defects in primary immunodeficiency diseases / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 638-640, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-465130
ABSTRACT
DNA repair defects are classified as combined immunodeficiencies with associated or syndromic features,including 8 kinds of diseases with mutation of 9 pathogenic gene (ATM,MRE11,NBS1,BLM,RNF168,DNMT3B,ZBTB24,PMS2,MCM4),which are mainly autosomal recessive and monogenic inheritance.This article mainly reviews the pathogenesis,clinical manifestation,immunophenotype,and diagnosis of these diseases.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2015
Tipo de documento:
Artigo
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