DESCRIBE <http://purl.uniprot.org/citations/29693493>

Subject	Predicate	Object
http://purl.uniprot.org/citations/29693493	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/29693493	http://www.w3.org/2000/01/rdf-schema#comment	" Purpose Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 70 causative genes identified to date. However, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing mutations are yet to be identified. The purpose of this study is to identify the causative mutations of a Chinese RP family. Methods Targeted next-generation sequencing (NGS) for a total of 163 genes which involved in inherited retinal disorders were used to screen the possible causative mutations. Sanger sequencing was used to verify the mutations. Results As results, we identified two heterozygous mutations: a splicing site mutation c.1407 + 1G>C and a nonsense mutation c. 1957C>T (p.R653X) in phosphodiesterase 6A (PDE6A) gene in the RP patient. These two mutations are inherited from his father and mother, respectively. Furthermore, these mutations are unique in our in-house database and are rare in human genome databases, implicating that these two mutations are pathological. Conclusion By using targeted NGS method, we identified a compound heterozygous mutation in PDE6A gene that is associated with RP in a Chinese family."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.org/dc/terms/identifier	"doi:10.1080/13816810.2018.1461912"xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Li J."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Li S."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Zhang S."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Zhu X."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Yang Z."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Zhang L."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Yang M."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/author	"Yang Y."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/date	"2018"xsd:gYear
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/name	"Ophthalmic Genet"xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/pages	"487-491"xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/title	"Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family."xsd:string
http://purl.uniprot.org/citations/29693493	http://purl.uniprot.org/core/volume	"39"xsd:string
http://purl.uniprot.org/citations/29693493	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/29693493
http://purl.uniprot.org/citations/29693493	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/29693493
http://purl.uniprot.org/uniprot/#_F1T0K3-mappedCitation-29693493	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/29693493
http://purl.uniprot.org/uniprot/#_P16499-mappedCitation-29693493	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/29693493
http://purl.uniprot.org/uniprot/#_O75316-mappedCitation-29693493	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/29693493
http://purl.uniprot.org/uniprot/P16499	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/29693493
http://purl.uniprot.org/uniprot/O75316	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/29693493
http://purl.uniprot.org/uniprot/F1T0K3	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/29693493