Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to the large gene size (79...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Flanigan, Kevin M., Dunn, Diane, von Niederhausern, Andrew, Soltanzadeh, Payam, Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda, Mendell, Jerry, Wall, Cheryl, King, Wendy, Pestronk, Alan, Florence, Julaine, Connolly, Anne, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Wong, Brenda, Morehart, Paula, Meyer, Amy, Finkel, Richard, Bonnemann, Carsten G., Medne, Livija, Day, John W., Dalton, Joline C., Margolis, Marcia, Hinton, Veronica, Weiss, Robert B.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3404892/
https://ncbi.nlm.nih.gov/pubmed/19937601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21114
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky