Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Nature Genetics

Volumn 46, Issue 11, 2014, Pages 1239-1244

  Lessel, Davor ^a,b   Vaz, Bruno ^c   Halder, Swagata ^c,d   Lockhart, Paul J ^e,f   Marinovic Terzic, Ivana ^g   Lopez Mosqueda, Jaime ^h,i   Philipp, Melanie ^a   Sim, Joe C H ^e   Smith, Katherine R ^f,j   Oehler, Judith ^c,d   Cabrera, Elisa ^k   Freire, Raimundo ^k   Pope, Kate ^e   Nahid, Amsha ^j   Norris, Fiona ^e   Leventer, Richard J ^c,l   Delatycki, Martin B ^e,f,m   Barbi, Gotthold ^a   Von Ameln, Simon ^a   Högel, Josef ^a   Degoricija, Marina ^g   Fertig, Regina ^d   Burkhalter, Martin D ⁿ   Hofmann, Kay ^o   Thiele, Holger ^p   Altmüller, Janine ^p   Nürnberg, Gudrun ^p   Nürnberg, Peter ^o,p   Bahlo, Melanie ^f,j   Martin, George M ^q   Aalfs, Cora M ^r   Oshima, Junko ^q   Terzic, Janos ^g   Amor, David J ^e,f   Dikic, Ivan ^h,i   Ramadan, Kristijan ^c,d   Kubisch, Christian ^a,b   more..

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF SPLIT   (Croatia)

^h GOETHE UNIVERSITY   (Germany)

ⁱ GOETHE UNIVERSITY MEDICAL SCHOOL   (Germany)

^j WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^k HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^l ROYAL CHILDREN'S HOSPITAL   (Australia)

^m AUSTIN HEALTH   (Australia)

ⁿ FRITZ LIPMANN INSTITUTE   (Germany)

^o UNIVERSITY OF COLOGNE   (Germany)

^p UNIVERSITY OF COLOGNE   (Germany)

^q UNIVERSITY OF WASHINGTON   (United States)

^r ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; PRIMER DNA; SPARTAN PROTEIN, HUMAN;

ANIMAL; CASE REPORT; CHROMOSOME MAP; DNA REPLICATION; DNA SEQUENCE; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GENE; GENETICS; GENOMIC INSTABILITY; GERMLINE MUTATION; HUMAN; LIVER CELL CARCINOMA; LIVER TUMOR; MALE; MOLECULAR CLONING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PROGERIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ZEBRA FISH;

AGE OF ONSET; ANIMALS; BASE SEQUENCE; CARCINOMA, HEPATOCELLULAR; CHROMOSOME MAPPING; CLONING, MOLECULAR; DNA PRIMERS; DNA REPLICATION; DNA-BINDING PROTEINS; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GENES, CDC; GENOMIC INSTABILITY; GERM-LINE MUTATION; HUMANS; LIVER NEOPLASMS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PROGERIA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

EID: 84908674649     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3103     Document Type: Article

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