Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

European Journal of Human Genetics

Volumn 20, Issue 4, 2012, Pages 411-419

  Thomas, Laura ^a   Spurlock, Gill ^a   Eudall, Claire ^a   Thomas, Nick S ^a   Mort, Matthew ^a   Hamby, Stephen E ^b   Chuzhanova, Nadia ^b   Brems, Hilde ^c   Legius, Eric ^c   Cooper, David N ^a   Upadhyaya, Meena ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b NOTTINGHAM TRENT UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

cutaneous neurofibromas; neurofibromatosis type 1; somatic and germline NF1 mutations

Indexed keywords

RAS PROTEIN;

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; GENE INACTIVATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NERVE SHEATH TUMOR; NEUROFIBROMA; NEUROFIBROMATOSIS; POINT MUTATION; PRIORITY JOURNAL; RNA ANALYSIS; SCHWANN CELL; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFIBROMATOSIS 1; SEQUENCE ANALYSIS, DNA; SKIN NEOPLASMS; TUMOR CELLS, CULTURED;

EID: 84858332871     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.207     Document Type: Article

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