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Article: Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

TitleMutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
Authors
van Damme, TGardeitchik, TMohamed, MGuerrero-Castillo, SFreisinger, PGuillemyn, BKariminejad, ADalloyaux, Dvan Kraaij, SLefeber, DJSyx, DSteyaert, WDeRycke, RHoischen, AKamsteeg, EJWong, SYvan Scherpenzeel, MJamali, PBrandt, PNijtmans, LKorenke, GCChung, BHYMAK, CCYHausser, IKornak, UFischer-Zirnsak, BStrom, TMMeitinger, TAlanay, YUtine, GELeung, KCPGhaderi-Sohi, SCoucke, PSymoens, SDe Paepe, AThiel, CHaack, TBMalfait, FMorava, ECallewaert, BWevers, RA
KeywordsARCL2
ATP6V1A
ATP6V1E1
autosomal recessive
CDG
cellular trafficking
congenital disorder of glycosylation
cutis laxa
Golgi apparatus
V-ATPase
Issue Date2017
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal of Human Genetics, 2017, v. 100 n. 2, p. 216-227 How to Cite?
DOI: http://dx.doi.org/10.1016/j.ajhg.2016.12.010
Persistent Identifierhttp://hdl.handle.net/10722/241617
ISSN
0002-9297
2023 Impact Factor: 8.1
2023 SCImago Journal Rankings: 4.516
PubMed Central ID
PMC5294668
ISI Accession Number ID
WOS:000393352000004

 

DC FieldValueLanguage
dc.contributor.authorvan Damme, T-
dc.contributor.authorGardeitchik, T-
dc.contributor.authorMohamed, M-
dc.contributor.authorGuerrero-Castillo, S-
dc.contributor.authorFreisinger, P-
dc.contributor.authorGuillemyn, B-
dc.contributor.authorKariminejad, A-
dc.contributor.authorDalloyaux, D-
dc.contributor.authorvan Kraaij, S-
dc.contributor.authorLefeber, DJ-
dc.contributor.authorSyx, D-
dc.contributor.authorSteyaert, W-
dc.contributor.authorDeRycke, R-
dc.contributor.authorHoischen, A-
dc.contributor.authorKamsteeg, EJ-
dc.contributor.authorWong, SY-
dc.contributor.authorvan Scherpenzeel, M-
dc.contributor.authorJamali, P-
dc.contributor.authorBrandt, P-
dc.contributor.authorNijtmans, L-
dc.contributor.authorKorenke, GC-
dc.contributor.authorChung, BHY-
dc.contributor.authorMAK, CCY-
dc.contributor.authorHausser, I-
dc.contributor.authorKornak, U-
dc.contributor.authorFischer-Zirnsak, B-
dc.contributor.authorStrom, TM-
dc.contributor.authorMeitinger, T-
dc.contributor.authorAlanay, Y-
dc.contributor.authorUtine, GE-
dc.contributor.authorLeung, KCP-
dc.contributor.authorGhaderi-Sohi, S-
dc.contributor.authorCoucke, P-
dc.contributor.authorSymoens, S-
dc.contributor.authorDe Paepe, A-
dc.contributor.authorThiel, C-
dc.contributor.authorHaack, TB-
dc.contributor.authorMalfait, F-
dc.contributor.authorMorava, E-
dc.contributor.authorCallewaert, B-
dc.contributor.authorWevers, RA-
dc.date.accessioned2017-06-20T01:46:09Z-
dc.date.available2017-06-20T01:46:09Z-
dc.date.issued2017-
dc.identifier.citationAmerican Journal of Human Genetics, 2017, v. 100 n. 2, p. 216-227-
dc.identifier.issn0002-9297-
dc.identifier.urihttp://hdl.handle.net/10722/241617-
dc.languageeng-
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/-
dc.relation.ispartofAmerican Journal of Human Genetics-
dc.subjectARCL2-
dc.subjectATP6V1A-
dc.subjectATP6V1E1-
dc.subjectautosomal recessive-
dc.subjectCDG-
dc.subjectcellular trafficking-
dc.subjectcongenital disorder of glycosylation-
dc.subjectcutis laxa-
dc.subjectGolgi apparatus-
dc.subjectV-ATPase-
dc.titleMutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa-
dc.typeArticle-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1016/j.ajhg.2016.12.010-
dc.identifier.pmcidPMC5294668-
dc.identifier.scopuseid_2-s2.0-85008429031-
dc.identifier.hkuros272703-
dc.identifier.volume100-
dc.identifier.issue2-
dc.identifier.spage216-
dc.identifier.epage227-
dc.identifier.isiWOS:000393352000004-
dc.publisher.placeUnited States-
dc.identifier.issnl0002-9297-

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