PMID: 25758222

Mackay EW, Apschner A, Schulte-Merker S
Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI.
Development. 2015 Mar 15;142(6):1095-101. doi: 10.1242/dev.113811., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCC6 p.Ile1424Thr
X
ABCC6 p.Ile1424Thr 25758222:45:130
status: NEW
view ABCC6 p.Ile1424Thr details
 Most of the known human PXE-causing mutations are in the second ABC or NBD domains (Le Saux et al., 2001) (Fig. 2B), including an I1424T substitution immediately preceding the human equivalent of zebrafish L1429 Fig. 1. Login to comment