Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

J Bone Miner Res. 2018 Jul;33(7):1377-1378. doi: 10.1002/jbmr.3460. Epub 2018 Jun 7.

Authors

Emma Tham^{1

2}, Gintautas Grigelionis², Anna Hammarsjö^{1

2}, Giedre Grigelioniene^{1

2}

Affiliations

¹ Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
² Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

PMID: 29878396
DOI: 10.1002/jbmr.3460

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Genetic Association Studies
Humans
Musculoskeletal Abnormalities*
Osteochondrodysplasias*
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Substances

PLOD2 protein, human
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase