RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaSeverely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumDiverse diseases from a ubiquitous process: the ribosomopathy paradoxRNase MRP RNA and human genetic diseasesHand and foot abnormalities associated with genetic diseasesRNase MRP and diseaseRibosome biogenesis in skeletal development and the pathogenesis of skeletal disordersGAMETOPHYTE DEFECTIVE 1, a putative subunit of RNases P/MRP, is essential for female gametogenesis and male competence in Arabidopsis.When ribosomes go bad: diseases of ribosome biogenesis.Molecular-pathogenetic classification of genetic disorders of the skeleton.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.Cartilage Hair Hypoplasia: First report from IranChromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.Pathogenic variants in non-protein-coding sequences.Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasiaThe major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type
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P2860
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
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2002 nî lūn-bûn
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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2002 թվականի փետրվարին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@ast
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@en
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@nl
type
label
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@ast
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@en
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@nl
prefLabel
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@ast
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@en
RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
@nl
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P2860
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RMRP gene sequence analysis co ...... ingle-nucleotide polymorphisms
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P2093
P2860
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10.1034/J.1399-0004.2002.610210.X
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2002-02-01T00:00:00Z