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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
BACKGROUND: 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...
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| Main Authors: | , , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2850895/ https://ncbi.nlm.nih.gov/pubmed/20302629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-44 |
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