Mutations in ANKH cause chondrocalcinosis.
Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM.
Pendleton A, et al. Among authors: hughes a.
Am J Hum Genet. 2002 Oct;71(4):933-40. doi: 10.1086/343054. Epub 2002 Sep 20.
Am J Hum Genet. 2002.
PMID: 12297987
Free PMC article.
One of the human mutations results in the substitution of a highly conserved amino acid residue within a predicted transmembrane segment. ...Both mutations segregate completely with disease status and are not found in control subjects. In addition, 1 of 95 U.K. pati …
One of the human mutations results in the substitution of a highly conserved amino acid residue within a predicted transmembra …