DESCRIBE <http://purl.uniprot.org/citations/25904304>

Subject	Predicate	Object
http://purl.uniprot.org/citations/25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25904304	http://www.w3.org/2000/01/rdf-schema#comment	" Background Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10. We present two sporadic patients showing a mild diffuse ichthyosis with palmoplantar keratoderma. Interestingly, one of them shows a significant hyperkeratosis of palms and soles similar to those present in the Meleda disease (OMIM 248300). Objective In this paper we would clarify the genetic difference between the two patients, giving rise to the different phenotype. Methods Clinical evaluation, followed by histological and molecular analysis has been established for these patients. Results We demonstrated the presence of a genetic cutaneous mosaicism. Both patients carry the KRT1 pI479T substitution, but in the palmoplantar areas of one of them, only the mutated allele is expressed (hemizygous). This leads to highlight a new type of cutaneous mosaic, the palmoplantar mosaicism."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.org/dc/terms/identifier	"doi:10.1111/jdv.13153"xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/author	"Melino G."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/author	"Terrinoni A."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/author	"Didona B."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/author	"Annicchiarico-Petruzzelli M."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/author	"Palombo R."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/author	"Giannella E."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/date	"2016"xsd:gYear
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/name	"J Eur Acad Dermatol Venereol"xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/pages	"847-851"xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/title	"Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease."xsd:string
http://purl.uniprot.org/citations/25904304	http://purl.uniprot.org/core/volume	"30"xsd:string
http://purl.uniprot.org/citations/25904304	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/25904304
http://purl.uniprot.org/citations/25904304	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/25904304
http://purl.uniprot.org/uniprot/#_P04264-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/#_H6VRF8-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/#_H6VRF9-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/#_H6VRG0-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/#_H6VRG1-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/#_H6VRG2-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/#_H6VRG3-mappedCitation-25904304	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/H6VRG3	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/25904304
http://purl.uniprot.org/uniprot/H6VRF8	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/25904304