Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB

American Journal of Human Genetics

Volumn 90, Issue 3, 2012, Pages 494-501

  Zankl, Andreas ^a,b   Duncan, Emma L ^a,b,c   Leo, Paul J ^a   Clark, Graeme R ^a   Glazov, Evgeny A ^a   Addor, Marie Claude ^d   Herlin, Troels ^e   Kim, Chong Ae ^f   Leheup, Bruno P ^g   McGill, Jim ^h   McTaggart, Steven ⁱ   Mittas, Stephan ^j   Mitchell, Anna L ^k   Mortier, Geert R ^l   Robertson, Stephen P ^m   Schroeder, Marie ^e   Terhal, Paulien ⁿ   Brown, Matthew A ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d Servide de Génétique Médicale   (Switzerland)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g UNIVERSITY HOSPITAL OF NANCY   (France)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ Royal Children's and Mater Children's Hospitals   (Australia)

^j CANTONAL HOSPITAL ST GALLEN   (Switzerland)

^k UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^l UNIVERSITY OF ANTWERP   (Belgium)

^m UNIVERSITY OF OTAGO   (New Zealand)

ⁿ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOCLAST DIFFERENTIATION FACTOR; TRANSCRIPTION FACTOR MAFB;

AMINO TERMINAL SEQUENCE; ARTICLE; BASE PAIRING; BONE DYSPLASIA; EXOME; EXON; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; KIDNEY DEVELOPMENT; MISSENSE MUTATION; MULTICENTRIC CARPOTARSAL OSTEOLYSIS; OSTEOCLASTOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; TRANSCRIPTION INITIATION;

BASE SEQUENCE; CARPAL BONES; CHILD; CHILD, PRESCHOOL; CLUSTER ANALYSIS; EXOME; EXONS; FEMALE; HAJDU-CHENEY SYNDROME; HETEROZYGOTE; HUMANS; MAFB TRANSCRIPTION FACTOR; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; TARSAL BONES; TRANSCRIPTIONAL ACTIVATION;

EID: 84862807626     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.01.003     Document Type: Article

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