Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy

Two mutational mechanisms are known to underlie Ullrich congenital muscular dystrophy (UCMD): heterozygous dominant negatively acting mutations and recessively acting loss of function mutations. We describe large genomic deletions on chromosome 21q22.3 as a novel type of mutation underlying recessiv...

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Bibliografiska uppgifter
I publikationen:Ann Neurol
Huvudupphovsmän: Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Yang, Michele, Medne, Līvija, Leach, Meganne, Conlin, Laura K., Spinner, Nancy, Shaikh, Tamim H., Falk, Marni, Neumeyer, Ann M., Bliss, Laurie, Tseng, Brian S., Winder, Thomas L., Bönnemann, Carsten G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2011
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5154621/
https://ncbi.nlm.nih.gov/pubmed/21280092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.22283
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