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Inherited ichthyoses: molecular causes of the disease in Czech patients

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 analysis re...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Orphanet J Rare Dis
Egile Nagusiak: Borská, Romana, Pinková, Blanka, Réblová, Kamila, Bučková, Hana, Kopečková, Lenka, Němečková, Jitka, Puchmajerová, Alena, Malíková, Marcela, Hermanová, Markéta, Fajkusová, Lenka
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498588/
https://ncbi.nlm.nih.gov/pubmed/31046801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1076-7
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