Cartilage hair hypoplasia mutations that lead to <i>RMRP</i> promoter inefficiency or RNA transcript instability
Eiji Nakashima(RIKEN), David Schlessinger(National Institute on Aging), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Ramaiah Nagaraja(National Institute on Aging), Gen Nishimura(Musashino University), Fabio Candotti(Institute of Immunology), Tim J. M. Welting(Maastricht University Medical Centre), Joseph Tran(National Institute on Aging), Ger J.M. Pruijn(Radboud University Nijmegen), Shepherd H. Schurman(National Institute on Aging), Jun Cheng(National Human Genome Research Institute), Yuichiro Hirose(RIKEN), Hirofumi Ohashi(Aichi Medical University)
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