Inherited ichthyoses: molecular causes of the disease in Czech patients

Inherited ichthyoses: molecular causes of the disease in Czech patients

Abstract Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and by inheritance. We present the genetic an...

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Bibliographic Details
Main Authors: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Autosomal recessive congenital ichthyosis
Keratinopathic ichthyosis
In silico analysis
3D protein structure
Online Access:http://link.springer.com/article/10.1186/s13023-019-1076-7

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http://link.springer.com/article/10.1186/s13023-019-1076-7

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