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Article: SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

TitleSLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Authors
Ng, BGSosicka, PAgada, SAlmannai, MBacino, CABarone, RBotto, LBurton, JECarlston, CChung, BHYCohen, JComan, DDobyns, WElias, AFEpstein, LGarozzo, DGrunewald, SHammer, TBHaven, JHeron, DHoganson, GELakhani, SLee, JLewis, KLongo, NLourenco, CMMak, CCYMendelsohn, BMignnot, CMirzaa, GMitchell, WOlezak, MParikian, APatterson, MCPierson, TQuinonez, SCRegan, BRosa, MEScaglia, FScheffer, ISegal, DSinghal, NSStriano, PSturiale, LSymonds, JWillis, MWolfe, LAYano, SPowis, ZSuchy, SMokry, JAEdmondson, ACFreeze, HH
Keywordscongenital disorders of glycosylation
glycoside
nucleotide sugar transporter
UDP-galactose
Issue Date2019
PublisherWiley for Human Genome Variation Society and Wiley-Liss. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004
Citation
Human Mutation, 2019, v. 40 n. 7, p. 908-925 How to Cite?
DOI: http://dx.doi.org/10.1002/humu.23731
Persistent Identifierhttp://hdl.handle.net/10722/269600
ISSN
1059-7794
2023 Impact Factor: 3.3
2023 SCImago Journal Rankings: 1.686
ISI Accession Number ID
WOS:000477673000009

 

DC FieldValueLanguage
dc.contributor.authorNg, BG-
dc.contributor.authorSosicka, P-
dc.contributor.authorAgada, S-
dc.contributor.authorAlmannai, M-
dc.contributor.authorBacino, CA-
dc.contributor.authorBarone, R-
dc.contributor.authorBotto, L-
dc.contributor.authorBurton, JE-
dc.contributor.authorCarlston, C-
dc.contributor.authorChung, BHY-
dc.contributor.authorCohen, J-
dc.contributor.authorComan, D-
dc.contributor.authorDobyns, W-
dc.contributor.authorElias, AF-
dc.contributor.authorEpstein, L-
dc.contributor.authorGarozzo, D-
dc.contributor.authorGrunewald, S-
dc.contributor.authorHammer, TB-
dc.contributor.authorHaven, J-
dc.contributor.authorHeron, D-
dc.contributor.authorHoganson, GE-
dc.contributor.authorLakhani, S-
dc.contributor.authorLee, J-
dc.contributor.authorLewis, K-
dc.contributor.authorLongo, N-
dc.contributor.authorLourenco, CM-
dc.contributor.authorMak, CCY-
dc.contributor.authorMendelsohn, B-
dc.contributor.authorMignnot, C-
dc.contributor.authorMirzaa, G-
dc.contributor.authorMitchell, W-
dc.contributor.authorOlezak, M-
dc.contributor.authorParikian, A-
dc.contributor.authorPatterson, MC-
dc.contributor.authorPierson, T-
dc.contributor.authorQuinonez, SC-
dc.contributor.authorRegan, B-
dc.contributor.authorRosa, ME-
dc.contributor.authorScaglia, F-
dc.contributor.authorScheffer, I-
dc.contributor.authorSegal, D-
dc.contributor.authorSinghal, NS-
dc.contributor.authorStriano, P-
dc.contributor.authorSturiale, L-
dc.contributor.authorSymonds, J-
dc.contributor.authorWillis, M-
dc.contributor.authorWolfe, LA-
dc.contributor.authorYano, S-
dc.contributor.authorPowis, Z-
dc.contributor.authorSuchy, S-
dc.contributor.authorMokry, JA-
dc.contributor.authorEdmondson, AC-
dc.contributor.authorFreeze, HH-
dc.date.accessioned2019-04-24T08:10:59Z-
dc.date.available2019-04-24T08:10:59Z-
dc.date.issued2019-
dc.identifier.citationHuman Mutation, 2019, v. 40 n. 7, p. 908-925-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/269600-
dc.languageeng-
dc.publisherWiley for Human Genome Variation Society and Wiley-Liss. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004-
dc.relation.ispartofHuman Mutation-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article]. Authors are not required to remove preprints posted prior to acceptance of the submitted version. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving: http://olabout.wiley.com/WileyCDA/Section/id-828039.html#terms-
dc.subjectcongenital disorders of glycosylation-
dc.subjectglycoside-
dc.subjectnucleotide sugar transporter-
dc.subjectUDP-galactose-
dc.titleSLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals-
dc.typeArticle-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/humu.23731-
dc.identifier.scopuseid_2-s2.0-85065023838-
dc.identifier.hkuros297493-
dc.identifier.volume40-
dc.identifier.issue7-
dc.identifier.spage908-
dc.identifier.epage925-
dc.identifier.isiWOS:000477673000009-
dc.publisher.placeUnited States-
dc.identifier.issnl1059-7794-

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