A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: The first report of a codon 227 mutation in bone

Histopathology

Volumn 50, Issue 6, 2007, Pages 691-704

  Idowu, B D ^a   Al Adnani, M ^d   O'Donnell, P ^a,d   Yu, L ^a   Odell, E ^f   Diss, T ^e   Gale, R E ^b   Flanagan, A M ^a,c,d,e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d ROYAL NATIONAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Bone; Bone neoplasm; Fibrous dysplasia; GNAS1; McCune Albright; Mutation

Indexed keywords

EDETIC ACID; PARAFFIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CASE STUDY; CHILD; CODON; CONTROLLED STUDY; ENDOCRINE TUMOR; FEMALE; FIBROUS DYSPLASIA; GENE; GENE MUTATION; GENETIC SCREENING; GNAS1 GENE; HISTOLOGY; HUMAN; HUMAN TISSUE; MALE; MEDICAL RECORD; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RADIODIAGNOSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BONE AND BONES; CHILD; CHILD, PRESCHOOL; CODON; COST-BENEFIT ANALYSIS; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROUS DYSPLASIA OF BONE; GENE EXPRESSION REGULATION; GENETIC SCREENING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; RESTRICTION MAPPING; SENSITIVITY AND SPECIFICITY;

EID: 34247623164     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2007.02676.x     Document Type: Article

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