Article
Mutations in ANKH cause chondrocalcinosis.
American journal of human genetics - 1 Oct 2002
Pendleton Adrian, Johnson Michelle D, Hughes Anne, Gurley Kyle A, Ho Andrew M, Doherty Michael, Dixey Josh, Gillet Pierre, Loeuille Damien, McGrath Rodney, Reginato Antonio, Shiang Rita, Wright Gary, Netter Patrick, Williams Charlene, Kingsley David M
Abstract excerpt
Chondrocalcinosis (CC) is a common cause of joint pain and arthritis that is caused by the deposition of calcium-containing crystals within articular cartilage. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2) (Baldwin et al. 1995; Hughes et al. 1995; Andrew et al. 1999). Here, we show that two previously described families with CCAL2 have...
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