Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
about
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumRibosomopathies: Global process, tissue specific defectsRNase MRP RNA and human genetic diseasesDisease-associated mutations that alter the RNA structural ensembleRNase MRP and diseaseOf proteins and RNA: the RNase P/MRP family.When ribosomes go bad: diseases of ribosome biogenesis.Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functionsInterpreting noncoding genetic variation in complex traits and human disease.Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAsGene regulation in the immune system by long noncoding RNAs.Regulation of RORγt in Inflammatory Lymphoid Cell Differentiation.Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr typeClinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia
P2860
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P2860
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
@nl
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@ast
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en-gb
type
label
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
@nl
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@ast
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en-gb
altLabel
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations
@en
prefLabel
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
@nl
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@ast
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en-gb
P2093
P2860
P50
P1433
P1476
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
@en
P2093
Andreas Zankl
Belinda A Campos-Xavier
Cheryl R Greenberg
Emmanouil T Dermitzakis
Luisa Bonafé
P2860
P356
10.1371/JOURNAL.PGEN.0010047
P407
P577
2005-10-01T00:00:00Z