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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

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dc.contributor.authorHoover-Fong, J-
dc.contributor.authorSobreira, N-
dc.contributor.authorJurgens, J-
dc.contributor.authorModaff, P-
dc.contributor.authorMoser, A-
dc.contributor.authorKim, OH-
dc.contributor.authorCho, TJ-
dc.contributor.authorCho, SY-
dc.contributor.authorKim, SJ-
dc.contributor.authorJin, DK-
dc.contributor.authorKitoh, H-
dc.contributor.authorPark, WY-
dc.contributor.authorLing, H-
dc.contributor.authorHetrick, KN-
dc.contributor.authorDoheny, KF-
dc.contributor.authorValle, D-
dc.contributor.authorPauli, RM-
dc.date.accessioned2016-11-14T23:15:05Z-
dc.date.available2016-11-14T23:15:05Z-
dc.date.issued2014-
dc.identifier.issn0002-9297-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/12852-
dc.language.isoen-
dc.subject.MESHAlleles-
dc.subject.MESHChild, Preschool-
dc.subject.MESHCholine-Phosphate Cytidylyltransferase-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHMutation, Missense-
dc.subject.MESHOsteochondrodysplasias-
dc.subject.MESHPedigree-
dc.subject.MESHPhosphatidylcholines-
dc.subject.MESHRetinitis Pigmentosa-
dc.titleMutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy-
dc.typeArticle-
dc.identifier.pmid24387990-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882727/-
dc.contributor.affiliatedAuthor김, 옥화-
dc.type.localJournal Papers-
dc.identifier.doi10.1016/j.ajhg.2013.11.018-
dc.citation.titleAmerican journal of human genetics-
dc.citation.volume94-
dc.citation.number1-
dc.citation.date2014-
dc.citation.startPage105-
dc.citation.endPage112-
dc.identifier.bibliographicCitationAmerican journal of human genetics, 94(1). : 105-112, 2014-
dc.identifier.eissn1537-6605-
dc.relation.journalidJ000029297-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
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