Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome

American Journal of Human Genetics

Volumn 80, Issue 4, 2007, Pages 811-815

  Rice, Gillian ^a   Newman, William G ^b   Dean, John ^c   Patrick, Teresa ^a   Parmar, Rekha ^a   Flintoff, Kim ^a   Robins, Peter ^e   Harvey, Scott ^f   Hollis, Thomas ^f   O'Hara, Ann ^d   Herrick, Ariane L ^g   Bowden, Andrew P ^h   Perrino, Fred W ^f   Lindahl, Tomas ^e   Barnes, Deborah E ^e   Crow, Yanick J ^a,i  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c NHS GRAMPIAN   (United Kingdom)

^d ROYAL ABERDEEN CHILDREN S HOSPITAL   (United Kingdom)

^e IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^f WAKE FOREST UNIVERSITY HEALTH SCIENCES   (United States)

^g HOPE HOSPITAL   (United Kingdom)

^h Rochdale Infirmary   (United Kingdom)

ⁱ ST LUKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EXODEOXYRIBONUCLEASE; MUTANT PROTEIN; PROTEIN TREX1; UNCLASSIFIED DRUG;

AGS1 GENE; AICARDI GOUTIERES SYNDROME; ARTICLE; CASE REPORT; CAUSAL ATTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME SUBUNIT; FAMILIAL CHILBLAIN LUPUS; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS; TREX1 GENE;

MAMMALIA;

EID: 34147185679     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/513443     Document Type: Article

References (25)

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