@article{article, title  = {{P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism}},

 publisher = {{Bioscientifica}},

 url = {{http://eprints.whiterose.ac.uk/141963/ }},

 year = {{2017}},

 month = {{7}},

 author = {{Balasubramanian M and Padidela R and Pollitt R and Bishop N and Mughal Z and Offiah A and Wagner B and McCaughey J and Stephens D}},

 doi = {{10.1530/boneabs.6.lb14}},

 journal = {{Bone Abstracts}},

 note = {{Accessed on 2024/12/25}}}