POT1 loss-of-function variants predispose to familial melanoma

Nature Genetics

Volumn 46, Issue 5, 2014, Pages 478-481

  Robles Espinoza, Carla Daniela ^a   Harland, Mark ^b   Ramsay, Andrew J ^c   Aoude, Lauren G ^d   Quesada, Víctor ^c   Ding, Zhihao ^a   Pooley, Karen A ^e   Pritchard, Antonia L ^d   Tiffen, Jessamy C ^a   Petljak, Mia ^a   Palmer, Jane M ^d   Symmons, Judith ^d   Johansson, Peter ^d   Stark, Mitchell S ^d   Gartside, Michael G ^d   Snowden, Helen ^b   Montgomery, Grant W ^d   Martin, Nicholas G ^d   Liu, Jimmy Z ^a   Choi, Jiyeon ^f   Makowski, Matthew ^f   Brown, Kevin M ^f   Dunning, Alison M ^e   Keane, Thomas M ^a   López Otín, Carlos ^c   Gruis, Nelleke A ^g   Hayward, Nicholas K ^d   Bishop, D Timothy ^b   Newton Bishop, Julia A ^b   Adams, David J ^a   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f NATIONAL CANCER INSTITUTE   (United States)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

POT1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; OLIGOSACCHARIDE; PEPTIDES AND PROTEINS; PROTECTION OF TELOMERES 1;

ARTICLE; CHROMOSOME ABERRATION; CONTROLLED STUDY; FAMILIAL CANCER; FAMILIAL MELANOMA; GENE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MELANOMA; MISSENSE MUTATION; MULTIPLE CANCER; ONSET AGE; POT1 GENE; PRIORITY JOURNAL; RNA SPLICING; TELOMERE; TELOMERE HOMEOSTASIS; ADULT; AGED; AUSTRALIA; GENE SEQUENCE; MAJOR CLINICAL STUDY; NETHERLANDS; PROTEIN BINDING; UNITED KINGDOM;

AMINO ACID SEQUENCE; AUSTRALIA; BASE SEQUENCE; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; MELANOMA; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NETHERLANDS; PEDIGREE; PROTEIN BINDING; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; TELOMERE; TELOMERE-BINDING PROTEINS;

EID: 84899624984     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2947     Document Type: Article

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