TMEM43

الوظيفة

الأهمية السريرية

المراجع

  1. EntrezGene 79188
  2. "OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7". omim.org. مؤرشف من الأصل في 23 أكتوبر 2019. اطلع عليه بتاريخ 29 أغسطس 2017. الوسيط |CitationClass= تم تجاهله (مساعدة)
  3. Wiemann S, Weil B, Wellenreuther R, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166. الوسيط |CitationClass= تم تجاهله (مساعدة)
  4. Merner ND, Hodgkinson KA, Haywood AF, et al. (April 2008). "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". American Journal of Human Genetics. 82 (4): 809–21. doi:10.1016/j.ajhg.2008.01.010. PMC 2427209. PMID 18313022. الوسيط |CitationClass= تم تجاهله (مساعدة)
  5. Haywood AF, Merner ND, Hodgkinson KA, et al. (April 2013). "Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada". European Heart Journal. 34 (13): 1002–11. doi:10.1093/eurheartj/ehs383. PMID 23161701. الوسيط |CitationClass= تم تجاهله (مساعدة)
  6. Franke WW, Dörflinger Y, Kuhn C, et al. (July 2014). "Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology". Cell and Tissue Research. 357 (1): 159–72. doi:10.1007/s00441-014-1865-1. PMID 24770932. الوسيط |CitationClass= تم تجاهله (مساعدة)
  7. Baskin B, Skinner JR, Sanatani S, et al. (November 2013). "TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations". Human Genetics. 132 (11): 1245–52. doi:10.1007/s00439-013-1323-2. PMID 23812740. الوسيط |CitationClass= تم تجاهله (مساعدة)
  8. Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics. 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID 21214875. الوسيط |CitationClass= تم تجاهله (مساعدة)

    قراءة متعمقة

    • بوابة علم الأحياء الخلوي والجزيئي
    • بوابة الكيمياء الحيوية
    • بوابة طب
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