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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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Research Article
Online dostop: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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