A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

Human Molecular Genetics

Volumn 11, Issue 18, 2002, Pages 2119-2127

  Cundy, Tim ^a   Hegde, Madhuri ^b,f   Naot, Dorit ^a   Chong, Belinda ^b   King, Alan ^a   Wallace, Robyn ^c,g   Mulley, John ^c   Love, Donald R ^d   Seidel, Joerg ^e   Fawkner, Matthew ^b   Banovic, Tatjana ^a   Callon, Karen E ^a   Grey, Andrew B ^a   Reid, Ian R ^a   Middleton Hardie, Catherine A ^a   Cornish, Jillian ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF AUCKLAND   (New Zealand)

^e FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; COMPLEMENTARY DNA; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN;

ACETABULUM; ADOLESCENCE; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEFORMATION; BONE DISEASE; BONE TURNOVER; CELL MATURATION; CHROMOSOME 8Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; CULTURE MEDIUM; DISEASE SEVERITY; DNA RECOMBINATION; EXON; FAMILY STUDY; FEMALE; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; GENOME; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IDIOPATHIC HYPERPHOSPHATASIA; IN VITRO STUDY; KIDNEY CELL; KIDNEY EPITHELIUM; KYPHOSIS; LONG BONE; MALE; NUCLEOTIDE SEQUENCE; OSTEOCLAST; OSTEOLYSIS; PRIORITY JOURNAL; PROTEIN SECRETION; SCHOOL CHILD; SIBLING; WILD TYPE;

EID: 18544371504     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.18.2119     Document Type: Article

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