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

Rheumatology (United Kingdom)

Volumn 52, Issue 2, 2013, Pages 406-408

  Abe, Junya ^a   Izawa, Kazushi ^a   Nishikomori, Ryuta ^a   Awaya, Tomonari ^a   Kawai, Tomoki ^a   Yasumi, Takahiro ^a   Hiragi, Naoko ^b   Hiragi, Toru ^b   Ohshima, Yusei ^c   Heike, Toshio ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Department of Pediatrics   (Japan)

^c UNIVERSITY OF FUKUI   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; TREX1 PROTEIN; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; ARTICLE; BRAIN ATROPHY; BRAIN CALCIFICATION; BRAIN DISEASE; FAMILIAL CHILBLAIN LUPUS; FAMILIAL DISEASE; GENE MUTATION; HETEROZYGOSITY; LEUKODYSTROPHY; MICROCEPHALY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS;

AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILBLAINS; CHILD; EXODEOXYRIBONUCLEASES; FEMALE; HUMANS; LUPUS ERYTHEMATOSUS, CUTANEOUS; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHOSPHOPROTEINS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84873829004     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kes181     Document Type: Article

References (10)

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