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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
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?
Persistent Identifierhttp://hdl.handle.net/10722/269600
ISSN
2023 Impact Factor: 3.3
2023 SCImago Journal Rankings: 1.686
ISI Accession Number ID

 

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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