| http://purl.uniprot.org/citations/32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32706452 | http://www.w3.org/2000/01/rdf-schema#comment | "Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in the ASAH1 gene (c.427T>G and c.358G>C). Further research is needed to elucidate the pathophysiological course."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.61752"xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/author | "Ma M."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/author | "Zhang Z."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/author | "Xu Y."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/author | "Bao X."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/author | "Qiu Z."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/name | "Am J Med Genet A"xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/pages | "2184-2186"xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/title | "Farber disease in a patient from China."xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://purl.uniprot.org/core/volume | "182"xsd:string |
| http://purl.uniprot.org/citations/32706452 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32706452 |
| http://purl.uniprot.org/citations/32706452 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5T7-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_A8K0B6-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B3KUZ6-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5P6-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5P7-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5Q0-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5Q2-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5Q3-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5Q8-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |
| http://purl.uniprot.org/uniprot/#_B1B5Q9-mappedCitation-32706452 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32706452 |