C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Nature Genetics

Volumn 39, Issue 9, 2007, Pages 1068-1070

  Richards, Anna ^a   Van Den Maagdenberg, Arn M J M ^b   Jen, Joanna C ^c   Kavanagh, David ^a   Bertram, Paula ^a   Spitzer, Dirk ^a   Liszewski, M Kathryn ^a   Barilla Labarca, Maria Louise ^d   Terwindt, Gisela M ^b   Kasai, Yumi ^a   McLellan, Mike ^a   Grand, Mark Gilbert ^a   Vanmolkot, Kaate R J ^b   De Vries, Boukje ^b   Wan, Jijun ^c   Kane, Michael J ^c   Mamsa, Hafsa ^c   Schäfer, Ruth ^c   Stam, Anine H ^b   Haan, Joost ^b   De Jong, Paulus T V M ^e,f,g   Storimans, Caroline W ^h   Van Schooneveld, Mary J ⁱ   Oosterhuis, Jendo A ^b   Gschwendter, Andreas ^j   Dichgans, Martin ^j   Kotschet, Katya E ^k   Hodgkinson, Suzanne ^l   Hardy, Todd A ^m   Delatycki, Martin B ⁿ   Hajj Ali, Rula A ^o   Kothari, Parul H ^a   Nelson, Stanley F ^c   Frants, Rune R ^b   Baloh, Robert W ^c   Ferrari, Michel D ^b   Atkinson, John P ^a   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d North Shore Long Island Jewish Health System ^*  (United States)

^e NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h MEANDER MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^k MONASH MEDICAL CENTRE   (Australia)

^l LIVERPOOL HOSPITAL   (Australia)

^m Department of Microbiology and Infectious Diseases   (Australia)

ⁿ UNIVERSITY OF MELBOURNE   (Australia)

^o LERNER RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3' 5' EXONUCLEASE; GENE PRODUCT; TREX1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; FAMILY; FRAMESHIFT MUTATION; GENE LOCATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKODYSTROPHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RETINA VASCULAR DISEASE; VASCULAR DISEASE;

AMINO ACID SEQUENCE; BRAIN DISEASES; CELL LINE; CELL NUCLEUS; CYTOPLASM; EXODEOXYRIBONUCLEASES; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUMINESCENT PROTEINS; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOPROTEINS; RECOMBINANT FUSION PROTEINS; RETINAL DISEASES; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 34548334617     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng2082     Document Type: Article

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