Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

Nature Genetics

Volumn 24, Issue 1, 2000, Pages 45-48

  Hughes, Anne E ^a   Ralston, Stuart H ^b   Marken, John ^c   Bell, Christine ^b   MacPherson, Heather ^b   Wallace, Richard G H ^d   Van Hul, Wim ^e   Whyte, Michael P ^f   Nakatsuka, Kyoshi ^g   Hovy, Louis ^h   Anderson, Dirk M ^c  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b UNIVERSITY OF ABERDEEN   (United Kingdom)

^c AMGEN INC   (United States)

^d MUSGRAVE PARK HOSPITAL   (United Kingdom)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g Osaka City General Medical Hospital   (Japan)

^h UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOCLAST DIFFERENTIATION FACTOR; SIGNAL PEPTIDE;

ARTICLE; BONE REMODELING; CHROMOSOME 18; GENE MAPPING; GENE MUTATION; HUMAN; OSTEOBLAST; OSTEOCLAST; OSTEOLYSIS; PAGET BONE DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

BASE SEQUENCE; CARRIER PROTEINS; DNA; FEMALE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOLYSIS; PEDIGREE; PROTEIN SORTING SIGNALS; RANK LIGAND; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B; RECEPTORS, TUMOR NECROSIS FACTOR;

EID: 0033987358     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/71667     Document Type: Article

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