VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Genetika Marfanovega sindroma = The Marfan syndrome genetics
    Pungerčič, Galina
    Background. The Marfan syndrome is an autosomal dominant heritable disorder ofconnective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of ... microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection) are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems. Conclusions. Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfansyndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in thefibrillin-1 gene.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 74, št. 5, 2005, str. 317-320)
    Vrsta gradiva - članek, sestavni del
    Leto - 2005
    Jezik - slovenski
    COBISS.SI-ID - 19281369

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    Digitalna knjižnica Slovenije - dLib.si

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