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Cartilage hair hypoplasia mutations that lead to RMRP promo..:

Nakashima, Eiji ; Tran, Joseph R. ; Welting, Tim J.M....
American Journal of Medical Genetics Part A.  143A (2007)  22 - p. 2675-2681 , 2007
Link: https://doi.org/10.1002/ajmg.a.32053