http://purl.uniprot.org/citations/22431096 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22431096 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22431096 | http://www.w3.org/2000/01/rdf-schema#comment | "IntroductionThe aim of this study is to describe a new mutation in the LMNA gene diagnosed by whole exome sequencing.MethodsA two-generation kindred with recessive limb-girdle muscular dystrophy was evaluated by exome sequencing of the proband's DNA.ResultsExome sequencing disclosed 194,618 variants (170,196 SNPs, 8482 MNPs, 7466 insertions, 8307 deletions, and 167 mixed combinations); 71,328 were homozygotic and 123,290 were heterozygotic, with 11,753 non-synonymous, stop-gain, stop-loss, or frameshift mutations occurring in the coding region or nearby intronic region. The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation c.G674A in exon 4 of LMNA causing a protein change R225Q in an arginine conserved from human to Xenopus tropicalis and in lamin B1.ConclusionsThis technique will be preferred for studying patients with muscular dystrophy in the coming years."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.org/dc/terms/identifier | "doi:10.1002/mus.22324"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.org/dc/terms/identifier | "doi:10.1002/mus.22324"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Garcia-Villanueva M."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Garcia-Villanueva M."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Gobernado I."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Gobernado I."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Jimenez-Escrig A."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Jimenez-Escrig A."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Sanchez-Herranz A."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/author | "Sanchez-Herranz A."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/name | "Muscle Nerve"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/name | "Muscle Nerve"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/pages | "605-610"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/pages | "605-610"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/title | "Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/title | "Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing."xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/volume | "45"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://purl.uniprot.org/core/volume | "45"xsd:string |
http://purl.uniprot.org/citations/22431096 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22431096 |
http://purl.uniprot.org/citations/22431096 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22431096 |