id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_gukk34cj2ba2hfeeqnbcodfs6m	Maaret Ridanpää	Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP	2002.0	9	.pdf	application/pdf	6251	480	59	We describe 36 different mutations in this gene in 91 Finnish and 44 non-Finnish CHH families. mutation in CHH patients was a base substitution G for A at nucleotide 70. 92% of the mutations in the Finnish CHH patients. maximum likelihood estimates with close markers, genealogical studies, and haplotype data suggested Keywords: RMRP; mutation; ancestral haplotype; age estimation; untranslated gene; cartilage-hair hypoplasia In this study, we describe the results of genetic and mutation analyses of RMRP in Finnish cartilage-hair hypoplasia Haplotypes of the Finnish CHH families were reconstructed assuming a minimum number of recombinations Table 1 RMRP mutations in Finnish and foreign CHH patients has been found in 78 – 98% of the Finnish disease chromosomes.30 – 34 The age of these major mutations in Finland mutation (48%) among the CHH patients in 44 families RMRP mutations segregate with specific haplotypes in the Finnish population	./cache/work_gukk34cj2ba2hfeeqnbcodfs6m.pdf	./txt/work_gukk34cj2ba2hfeeqnbcodfs6m.txt