Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population

DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by mutations in LIG4. Patients suffer from a broad spectrum of clinical problems, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined imm...

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Detalles Bibliográficos
Autores principales: Luo, Xianze, Liu, Qing, Jiang, Jinqiu, Tang, Wenjing, Ding, Yuan, Zhou, Lina, Yu, Jie, Tang, Xuemei, An, Yunfei, Zhao, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498043/
https://www.ncbi.nlm.nih.gov/pubmed/34630384
http://dx.doi.org/10.3389/fimmu.2021.695993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498043/
https://www.ncbi.nlm.nih.gov/pubmed/34630384
http://dx.doi.org/10.3389/fimmu.2021.695993

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