Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a founder effect in patients of British descent

Journal of Bone and Mineral Research

Volumn 20, Issue 2, 2005, Pages 227-231

  Lucas, Gavin J A ^a   Hocking, Lynne J ^a   Daroszewska, Anna ^a   Cundy, Tim ^b   Nicholson, Geoff C ^c   Walsh, John P ^d   Fraser, William D ^e   Meier, Christian ^f,g   Hooper, Michael J ^f,g   Ralston, Stuart H ^a,h  

^a UNIVERSITY OF ABERDEEN   (United Kingdom)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^e ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^f Department of Microbiology and Infectious Diseases   (Australia)

^g UNIVERSITY OF SYDNEY   (Australia)

^h UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

Founder effect; Genetic; Haplotype; Paget's disease of bone; SQSTM1

Indexed keywords

BINDING PROTEIN; SEQUESTOSOME 1; UBIQUITIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FOUNDER EFFECT; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PAGET BONE DISEASE; PROTEIN DOMAIN;

3' UNTRANSLATED REGIONS; ALLELES; DNA PRIMERS; EXONS; FEMALE; FOUNDER EFFECT; GENOTYPE; GREAT BRITAIN; HAPLOTYPES; HUMANS; INTRONS; MALE; MODELS, GENETIC; MUTATION; ODDS RATIO; OSTEITIS DEFORMANS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); PROTEIN STRUCTURE, TERTIARY; PROTEINS; SOFTWARE; UBIQUITIN;

EID: 19944434345     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/JBMR.041106     Document Type: Article

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