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A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
BACKGROUND: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessive mutations is rarely observed. In consanguineous families, homozygosity mappi...
Autores principales: | Al-Hassnan, Zuhair N., Shinwari, Zarghuna MA., Wakil, Salma M., Tulbah, Sahar, Mohammed, Shamayel, Rahbeeni, Zuhair, Alghamdi, Mohammed, Rababh, Monther, Colak, Dilek, Kaya, Namik, Al-Fayyadh, Majid, Alburaiki, Jehad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4714499/ https://www.ncbi.nlm.nih.gov/pubmed/26768247 http://dx.doi.org/10.1186/s12881-016-0267-5 |
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