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rdf:type |
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lifeskim:mentions |
umls-concept:C0009325,
umls-concept:C0020792,
umls-concept:C0026848,
umls-concept:C0028953,
umls-concept:C0162343,
umls-concept:C0205125,
umls-concept:C0205314,
umls-concept:C0242960,
umls-concept:C0679622,
umls-concept:C0796358,
umls-concept:C1413590,
umls-concept:C1510941,
umls-concept:C1707689,
umls-concept:C1880202,
umls-concept:C1881250
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pubmed:dateCreated |
2010-4-9
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pubmed:abstractText |
Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (BM) patients as PCR-based techniques tend to miss gross genomic rearrangements as well as copy number variations (CNVs) in both the coding sequence and intronic regions.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-10407855,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-11259413,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-11691587,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-11865138,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-12218063,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-12374585,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-12402292,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-12467756,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-12840783,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-15127309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-1544908,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-1556127,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-15563506,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-15689448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-15756638,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-16130093,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-16141002,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-16169245,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-16258947,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-16278855,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-17389918,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-17397242,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-17588753,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-17702048,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18276594,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18362356,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18400749,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18487280,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18663755,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18683213,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-18852439,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-19040728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-19309692,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-19884007,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-19949035,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-2322559,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-7881296,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-8168508,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20302629-8387021
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2350
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pubmed:author |
pubmed-author:BertiniEnricoE,
pubmed-author:BonaldoPaoloP,
pubmed-author:BovolentaMatteoM,
pubmed-author:FabrisMarinaM,
pubmed-author:FerliniAlessandraA,
pubmed-author:GrumatiPaoloP,
pubmed-author:GualandiFrancescaF,
pubmed-author:MartoniElenaE,
pubmed-author:MercuriEugenioE,
pubmed-author:MerliniLucianoL,
pubmed-author:NeriMarcellaM,
pubmed-author:SabatelliPatriziaP,
pubmed-author:UrciuoloAnnaA
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pubmed:issnType |
Electronic
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pubmed:volume |
11
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
44
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pubmed:dateRevised |
2010-9-30
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pubmed:meshHeading |
pubmed-meshheading:20302629-Adolescent,
pubmed-meshheading:20302629-Adult,
pubmed-meshheading:20302629-Alleles,
pubmed-meshheading:20302629-Child,
pubmed-meshheading:20302629-Child, Preschool,
pubmed-meshheading:20302629-Cohort Studies,
pubmed-meshheading:20302629-Collagen Type VI,
pubmed-meshheading:20302629-Comparative Genomic Hybridization,
pubmed-meshheading:20302629-Female,
pubmed-meshheading:20302629-Fibroblasts,
pubmed-meshheading:20302629-Gene Deletion,
pubmed-meshheading:20302629-Gene Dosage,
pubmed-meshheading:20302629-Genetic Heterogeneity,
pubmed-meshheading:20302629-Genotype,
pubmed-meshheading:20302629-Heterozygote,
pubmed-meshheading:20302629-Humans,
pubmed-meshheading:20302629-Immunohistochemistry,
pubmed-meshheading:20302629-Introns,
pubmed-meshheading:20302629-Male,
pubmed-meshheading:20302629-Middle Aged,
pubmed-meshheading:20302629-Muscular Diseases,
pubmed-meshheading:20302629-Muscular Dystrophies,
pubmed-meshheading:20302629-Mutation,
pubmed-meshheading:20302629-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:20302629-Phenotype
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pubmed:year |
2010
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pubmed:articleTitle |
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
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pubmed:affiliation |
Department of Experimental and Diagnostic Medicine - Section of Medical Genetics, University of Ferrara, Ferrara, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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