Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Nature Genetics

Volumn 43, Issue 4, 2011, Pages 365-371

  Goudie, David R ^a   D'Alessandro, Mariella ^b   Merriman, Barry ^c   Lee, Hane ^c   Szeverényi, Ildikó ^d   Avery, Stuart ^d   O'Connor, Brian D ^c   Nelson, Stanley F ^c   Coats, Stephanie E ^a   Stewart, Arlene ^a   Christie, Lesley ^b   Pichert, Gabriella ^e   Friedel, Jean ^f   Hayes, Ian ^g   Burrows, Nigel ^h   Whittaker, Sean ⁱ   Gerdes, Anne Marie ^j,k   Broesby Olsen, Sigurd ^k   Ferguson Smith, Malcolm A ^l   Verma, Chandra ^m   Lunny, Declan P ^d   Reversade, Bruno ^d   Lane, E Birgitte ^b,d   more..

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^e GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^f Centre Hospitalier Chalon sur Saone   (France)

^g AUCKLAND CITY HOSPITAL   (New Zealand)

^h ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁱ KING'S COLLEGE LONDON   (United Kingdom)

^j Rigshospitalet   (Denmark)

^k ODENSE UNIVERSITY HOSPITAL   (Denmark)

^l UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^m BIOINFORMATICS INSTITUTE   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1;

ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOME 9; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; GENE LOCUS; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; LIGAND BINDING; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SQUAMOUS CELL CARCINOMA;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARCINOMA; CODON, NONSENSE; CONSERVED SEQUENCE; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HUMANS; KERATOACANTHOMA; MALE; MARFAN SYNDROME; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SEQUENCE HOMOLOGY, AMINO ACID; SKIN NEOPLASMS;

EID: 79953180846     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.780     Document Type: Article

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