Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families

Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. Six additional genes (TNFSF11, TNFRSF11A, CLCN7, OSTM1, SNX10, P...

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Bibliografische gegevens
Gepubliceerd in:Acta Pharmacol Sin
Hoofdauteurs: Zhang, Xiao-ya, He, Jin-wei, Fu, Wen-zhen, Wang, Chun, Zhang, Zhen-lin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5672067/
https://ncbi.nlm.nih.gov/pubmed/28816234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/aps.2017.108
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