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...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4714499/
https://ncbi.nlm.nih.gov/pubmed/26768247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0267-5
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