Novel desmoplakin mutations in familial Carvajal syndrome

Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, mapping on chromosome 6q24 and caused by mutations in DSP gene...

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Bibliografiska uppgifter
I publikationen:Acta Myol
Huvudupphovsmän: YERMAKOVICH, DANAT, SIVITSKAYA, LARYSA, VAIKHANSKAYA, TATIYANA, DANILENKO, NINA, MOTUK, IRYNA
Materialtyp: Artigo
Språk:Inglês
Publicerad: Pacini Editore srl 2018
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Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6416697/
https://ncbi.nlm.nih.gov/pubmed/30944905
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