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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Detalles Bibliográficos
Autores principales: YERMAKOVICH, DANAT, SIVITSKAYA, LARYSA, VAIKHANSKAYA, TATIYANA, DANILENKO, NINA, MOTUK, IRYNA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416697/
https://www.ncbi.nlm.nih.gov/pubmed/30944905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416697/
https://www.ncbi.nlm.nih.gov/pubmed/30944905

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