DESCRIBE <http://purl.uniprot.org/citations/9349950>

Subject	Predicate	Object
http://purl.uniprot.org/citations/9349950	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9349950	http://www.w3.org/2000/01/rdf-schema#comment	" Background Although mutations of the CHM gene have been reported in the Caucasian patients with choroideremia, there have been no such reports in non-Caucasian patients. We analyzed the CHM gene in a Japanese patient with choroideremia associated with pinealoma. Methods The method for screening was a nonradioisotopic modification of single-strand conformation polymorphism (SSCP) analysis. The PCR products from the patient and the carrier were screened and directly sequenced using an automated DNA sequencer. The PCR product of the carrier was also subcloned into a vector and the subcloned products were sequenced. Results SSCP analysis showed an identical abnormal band shift in the patient and the carrier. Direct sequence analysis showed a hemizygous A to CC mutation at nucleotide 1608 of the CHM gene in the patient, suspected to result in the absence or truncation of the predicted CHM protein. The sequence using both the PCR product and the subcloned DNA of the carrier showed both wild-type and mutant bands indicating a heterozygote. Conclusion The hemizygous mutation was detected in a patient and the heterozygous pattern in his mother, the carrier, suggesting that this mutation caused the disease."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.org/dc/terms/identifier	"doi:10.1007/bf00946942"xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Kanai A."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Kitagawa H."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Kohno N."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Hayakawa M."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Hotta Y."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Fujiki K."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/author	"Doi R."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/date	"1997"xsd:gYear
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/name	"Graefes Arch Clin Exp Ophthalmol"xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/pages	"653-655"xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/title	"A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma."xsd:string
http://purl.uniprot.org/citations/9349950	http://purl.uniprot.org/core/volume	"235"xsd:string
http://purl.uniprot.org/citations/9349950	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/9349950
http://purl.uniprot.org/citations/9349950	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/9349950
http://purl.uniprot.org/uniprot/#_B4DRL9-mappedCitation-9349950	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/#_A8K545-mappedCitation-9349950	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/#_P24386-mappedCitation-9349950	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/#_Q8N917-mappedCitation-9349950	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/Q8N917	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/P24386	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/B4DRL9	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/9349950
http://purl.uniprot.org/uniprot/A8K545	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/9349950