Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing

Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3′ untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materia...

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Main Authors: Kalman, Lisa, Tarleton, Jack, Hitch, Monica, Hegde, Madhuri, Hjelm, Nick, Berry-Kravis, Elizabeth, Zhou, Lili, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., Toji, Lorraine
格式: Artigo
語言:Inglês
出版: American Society for Investigative Pathology 2013
主題:
Regular Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3699699/
https://ncbi.nlm.nih.gov/pubmed/23680132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2013.03.008
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