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A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondro...

A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondro...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808704621

A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis

About this item

Full title

A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis

Publisher

England: Elsevier Limited

Journal title

Annals of the rheumatic diseases, 2015-09, Vol.74 (9), p.1756-1762

Language

English

Formats

Publication information

Publisher

England: Elsevier Limited

More information

Scope and Contents

Contents

ObjectiveTo identify pathogenic mutations that reveal underlying biological mechanisms driving osteoarthritis (OA).MethodsExome sequencing was applied to two distant family members with dominantly inherited early onset primary OA at multiple joint sites with chondrocalcinosis (familial generalised osteoarthritis, FOA). Confirmation of mutations occ...

Alternative Titles

Full title

A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1808704621

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808704621

Other Identifiers

ISSN

0003-4967

E-ISSN

1468-2060

DOI

10.1136/annrheumdis-2013-205149

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