Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
Publié dansPLOS genetics, vol. 1, no. 4, e47
Date de publication2005
Résumé
Mots-clés
- Animals
- Base Sequence
- Endoribonucleases/ genetics
- Evolution, Molecular
- Family Health
- Genome
- Genomics
- Heterozygote
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias/genetics
- Polymorphism, Genetic
- Promoter Regions, Genetic
- RNA/ genetics
- Sequence Homology, Nucleic Acid
Structure d'affiliation
Citation (format ISO)
BONAFE, Luisa et al. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. In: PLOS genetics, 2005, vol. 1, n° 4, p. e47. doi: 10.1371/journal.pgen.0010047
Fichiers principaux (1)
Article (Published version)
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Identifiants
- PID : unige:9146
- DOI : 10.1371/journal.pgen.0010047
- PMID : 16244706
ISSN du journal1553-7390