| http://purl.uniprot.org/citations/24889544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24889544 | http://www.w3.org/2000/01/rdf-schema#comment | "Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.org/dc/terms/identifier | "doi:10.1111/pde.12320"xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/author | "Fischer J."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/author | "Irvine A.D."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/author | "Lenane P."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/author | "Devaney D."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/author | "Kiely C."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/name | "Pediatr Dermatol"xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/pages | "517-518"xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/title | "Ichthyosis prematurity syndrome: a case report and review of known mutations."xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://purl.uniprot.org/core/volume | "31"xsd:string |
| http://purl.uniprot.org/citations/24889544 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24889544 |
| http://purl.uniprot.org/citations/24889544 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24889544 |
| http://purl.uniprot.org/uniprot/#_B3KNH1-mappedCitation-24889544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24889544 |
| http://purl.uniprot.org/uniprot/#_B3KQE8-mappedCitation-24889544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24889544 |
| http://purl.uniprot.org/uniprot/#_Q9BTA1-mappedCitation-24889544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24889544 |
| http://purl.uniprot.org/uniprot/#_Q6P1M0-mappedCitation-24889544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24889544 |
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