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Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.

DC Field Value Language
dc.contributor.authorLee, EH-
dc.contributor.authorKim, YH-
dc.contributor.authorHwang, JS-
dc.contributor.authorKim, SH-
dc.date.accessioned2011-05-19T04:31:37Z-
dc.date.available2011-05-19T04:31:37Z-
dc.date.issued2010-
dc.identifier.issn1011-8934-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/2642-
dc.description.abstractCystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation. Somatosensory evoked potential of posterior tibial nerve stimulation showed the central conduction dysfunction through the posterior column of spinal cord. He was diagnosed non-type I cystinuria by urinary amino acid analysis and oral cystine loading test. We screened him and his family for gene mutation by direct sequencing of SLC3A1 and SLC7A9 genes. In this patient, we identified new missence mutation G173R in SLC7A9 gene.-
dc.language.isoen-
dc.subject.MESHAdolescent-
dc.subject.MESHAmino Acid Substitution-
dc.subject.MESHAmino Acid Transport Systems, Basic-
dc.subject.MESHAmino Acids-
dc.subject.MESHAtaxia-
dc.subject.MESHBase Sequence-
dc.subject.MESHCystine-
dc.subject.MESHCystinuria-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMental Retardation-
dc.subject.MESHMutation, Missense-
dc.subject.MESHPedigree-
dc.subject.MESHRepublic of Korea-
dc.titleNon-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.-
dc.typeArticle-
dc.identifier.pmid20052367-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800027/-
dc.contributor.affiliatedAuthor황, 진순-
dc.contributor.affiliatedAuthor김, 성환-
dc.type.localJournal Papers-
dc.identifier.doi10.3346/jkms.2010.25.1.172-
dc.citation.titleJournal of Korean medical science-
dc.citation.volume25-
dc.citation.number1-
dc.citation.date2010-
dc.citation.startPage172-
dc.citation.endPage175-
dc.identifier.bibliographicCitationJournal of Korean medical science, 25(1). : 172-175, 2010-
dc.identifier.eissn1598-6357-
dc.relation.journalidJ010118934-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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