Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family

Calcified Tissue International

Volumn 79, Issue 5, 2006, Pages 281-288

  Beyens, G ^a   Wuyts, W ^a   Cleiren, E ^a   De Freitas, F ^a   Tiegs, R ^b   Van Hul, W ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b MAYO CLINIC ROCHESTER   (United States)

Author keywords

Paget's disease of bone; RT PCR experiment; Splice site mutation; SQSTM1

Indexed keywords

MESSENGER RNA; UBIQUITIN;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CHROMOSOME 5Q; CONTROLLED STUDY; EXTENDED FAMILY; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTRON; MARKER GENE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PAGET BONE DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SQSTM1 GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; OSTEITIS DEFORMANS; PEDIGREE; POINT MUTATION; RNA SPLICE SITES; UBIQUITIN; UNITED STATES;

EID: 33845435884     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-006-0122-3     Document Type: Article

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