相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome
Charlotte A. Haaxma et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Familial Aicardi-Goutieres Syndrome Due to SAMHD1 Mutations Is Associated With Chronic Arthropathy and Contractures
Russell C. Dale et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis
Venkateswaran Ramesh et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
Yanick J. Crow et al.
HUMAN MOLECULAR GENETICS (2009)
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I. Rice et al.
NATURE GENETICS (2009)
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
Min Ae Lee-Kirsch et al.
NATURE GENETICS (2007)
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus
Min Ae Lee-Kirsch et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2007)
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
Gillian Rice et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus
Yanick J. Crow et al.
NATURE GENETICS (2006)
分享论文
