Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family

ConclusionOur approach would help to avoid the inappropriate use of bone resorption inhibitors for currently mis- or under-diagnosed HPP, given that the presence of further, yet undetected mutations of theALPL gene are plausible.
Source: Journal of Bone and Mineral Metabolism - Category: Orthopaedics Source Type: research