Antti Salo from Johanna Myllyharju´s group has as shared first authorship in a publication recently published in Human Molecular Genetics. The article describes for the first time a human connective tissue disease caused by collagen prolyl-4-hydroxylase mutations. The title of the article is P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye, with authors Zou Y, Donkervoort S, Salo AM, Reghan Foley A, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG.
Hum Mol Genet. 2017 Apr 13. doi: 10.1093/hmg/ddx110. [Epub ahead of print] https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddx110
Last updated: 25.4.2017