An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Nature Genetics

Volumn 45, Issue 8, 2013, Pages 947-950

  Weedon, Michael N ^a   Ellard, Sian ^a   Prindle, Marc J ^b   Caswell, Richard ^a   Allen, Hana Lango ^a   Oram, Richard ^a   Godbole, Koumudi ^c,d   Yajnik, Chittaranjan S ^d   Sbraccia, Paolo ^e   Novelli, Giuseppe ^e   Turnpenny, Peter ^f   McCann, Emma ^g   Goh, Kim Jee ^h   Wang, Yukai ^h   Fulford, Jonathan ^a   McCulloch, Laura J ^a   Savage, David B ^h   Rahilly, Stephen O ^h   Kos, Katarina ^a   Loeb, Lawrence A ^b,i   Semple, Robert K ^h   Hattersley, Andrew T ^a   more..

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF WASHINGTON   (United States)

^c DEENANATH MANGESHKAR HOSPITAL   (India)

^d KEM HOSPITAL   (India)

^e UNIVERSITY OF ROME TOR VERGATA   (Italy)

^f ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^g GLAN CLWYD HOSPITAL   (United Kingdom)

^h UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁱ UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE DELTA; DNA POLYMERASE; PHOSPHODIESTERASE I; POLD1 PROTEIN; SPLEEN EXONUCLEASE; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL CELL; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; GENE DELETION; GENETIC DISORDER; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPOGONADISM; LIPODYSTROPHY; MALE; MANDIBLE HYPOPLASIA; MANDIBULAR HYPOPLASIA DEAFNESS AND PROGEROID FEATURE SYNDROME; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ANIMALS; CATALYTIC DOMAIN; CELL LINE; DNA POLYMERASE III; ENZYME ACTIVATION; FACIES; FIBROSIS; HUMANS; LIPODYSTROPHY; MAGNETIC RESONANCE IMAGING; MALE; MICE; MODELS, MOLECULAR; PHENOTYPE; PROTEIN CONFORMATION; READING FRAMES; SEQUENCE DELETION; SUBCUTANEOUS FAT, ABDOMINAL; SYNDROME;

EID: 84881025265     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2670     Document Type: Article

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