About: A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy

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About: A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy Goto Sponge NotDistinct Permalink

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scientific article published on 15 August 2007

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2007 (uk) article scientifique publié en 2007 (fr) scientific article published on 15 August 2007 (en) artículu científicu espublizáu n'agostu de 2007 (ast)
publication date	wds:Q80968804-627330FA-B308-4B51-A752-4CC4452D8D18
publication date	2007-08-15 00:00:00Z (xsd:dateTime)
author name string	wds:Q80968804-3DC86CFF-F7AB-406D-9ADC-5D1023C825FC wds:Q80968804-425EC73A-B999-430C-BBD2-4793A8DE7DAE wds:Q80968804-5670F50E-D977-4458-BFEB-B6BED1B27799 wds:Q80968804-5E18C50D-B231-451A-9867-9B2046CE8533 wds:Q80968804-694E35DA-71D5-49D9-A776-45EBA8EB7006 wds:Q80968804-6E5237EB-D956-4585-B90F-A730631EBA6A wds:Q80968804-72539635-25BC-4FCC-888B-04D3F710F5AF wds:Q80968804-A0CB7B21-3E54-41E4-8505-C061B0C8FEE3 wds:Q80968804-A5798C6C-E434-4687-BEFE-718812236943 wds:Q80968804-E45A88CE-FE4B-48F3-B04A-165FFAFDA6DC
author name string	Lombès A Chapon F Jauzac P Schaeffer S Deslandes B Read MH Leporrier N Herlicoviez D Coulbault L Mouadil A
rdfs:label	A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (en) A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (nl)
skos:prefLabel	A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (en) A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (nl)
name	A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (en) A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (nl)
author	wds:Q80968804-1425B0DA-B3C9-4E4B-9E7A-E9DD96AD37CF
author	Stéphane Allouche
title	wds:Q80968804-9A6D53BA-CF37-4FA9-9317-F0DDA2BCA1EE
title	A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy (en)
page(s)	wds:Q80968804-02AEE2BA-E84C-4B80-A1E7-F9C0D554AF14
page(s)	601-605
instance of	wds:Q80968804-2D574BE7-FC80-43D8-AE48-4045AC115FB0
instance of	scholarly article
PubMed ID	wds:Q80968804-DBCB4A4B-9C7D-4A7B-B44C-0C798058A032
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17761147
PubMed ID	17761147
published in	wds:Q80968804-E6A78851-BDCB-4F4C-84FA-C2174AD744C0
published in	Biochemical and Biophysical Research Communications
issue	wds:Q80968804-05E285C5-0DEB-4F96-8426-4190DE60A11C
volume	wds:Q80968804-2D935BA2-0CFF-4938-A404-F460CD5985F1
issue	3
volume	362
DOI	wds:Q80968804-84361D47-A668-42E0-A678-C0A9BE14038C
DOI	http://dx.doi.org/10.1016/J.BBRC.2007.08.040
DOI	10.1016/J.BBRC.2007.08.040
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q80968804
is cites work of	Mitochondrial DNA Sequence Variation Associated With Peripheral Nerve Function in the Elderly Structure of the large ribosomal subunit from human mitochondria. Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA) Mitochondrial ribosome assembly in health and disease De novo mtDNA point mutations are common and have a low recurrence risk. Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
is cites work of	wds:Q28115977-4168C3CB-C2CD-4547-AFC9-2B03B33D2EED wds:Q36189272-FB02A4A1-04A4-4720-80F1-53F4A363C34D wds:Q33886230-D35DB9C1-F7E6-46A2-9A09-A88DB49FD69F wds:Q28116177-592BA95B-1933-4BDF-8242-680BE8DAAA12 wds:Q37120797-673090EA-44A3-4BA6-BF54-1B03AD8CC849 wds:Q34447747-20C3CEE2-F711-4A05-B66F-9CFEFF7DEAFD wds:Q41779514-3509318F-4DFC-4862-8306-C3EA6BE0C895

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