Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

Dominant Mutations of the TREX1 Exonuclease Gene in Lupus and Aicardi-Goutières Syndrome

(2011) Jason M. Fye et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

(2010) Charlotte A. Haaxma et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

(2010) Jane C. Ravenscroft et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

Aicardi-Goutieres syndrome

(2009) S. Orcesi et al.   BRITISH MEDICAL BULLETIN

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS