<page_title> RNase MRP </page_title> <section_title> Diseases associated with RNAse MRP gene </section_title> <table> <cell> Kyphomelic dysplasia <col_header> Disease </col_header> </cell> <cell> KD <col_header> Abbreviation </col_header> </cell> <cell> Mutation (insertion) of T at 194-195 paternal allele and a 63 C-->T point mutation of the maternal allele. <col_header> Location of mutation </col_header> </cell> </table>
A mutation (insertion) of T at 194-195 paternal allele and a 63C-->T point mutation of the maternal allele have been discovered in the RMRP gene with Kyphomelic dysplasia (KD).