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Article: Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy

TitleDystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy
Authors
Chong, YKMa, LCLo, KLLee, CKMak, CMKan, NCALam, CW
KeywordsDystroglycans
Muscular dystrophies
Protein-O-mannosyltransferase
Issue Date2014
Citation
European Journal of Paediatric Neurology, 2014, v. 18, p. 532-535 How to Cite?
DOI: http://dx.doi.org/10.1016/j.ejpn.2014.03.003
Persistent Identifierhttp://hdl.handle.net/10722/203619
ISI Accession Number ID
WOS:000338825000014

 

DC FieldValueLanguage
dc.contributor.authorChong, YKen_US
dc.contributor.authorMa, LCen_US
dc.contributor.authorLo, KLen_US
dc.contributor.authorLee, CKen_US
dc.contributor.authorMak, CMen_US
dc.contributor.authorKan, NCAen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2014-09-19T15:43:53Z-
dc.date.available2014-09-19T15:43:53Z-
dc.date.issued2014en_US
dc.identifier.citationEuropean Journal of Paediatric Neurology, 2014, v. 18, p. 532-535en_US
dc.identifier.urihttp://hdl.handle.net/10722/203619-
dc.languageengen_US
dc.relation.ispartofEuropean Journal of Paediatric Neurologyen_US
dc.subjectDystroglycans-
dc.subjectMuscular dystrophies-
dc.subjectProtein-O-mannosyltransferase-
dc.titleDystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophyen_US
dc.typeArticleen_US
dc.identifier.emailMak, CM: chloemak@hkucc.hku.hken_US
dc.identifier.emailKan, NCA: anckan@hku.hken_US
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.identifier.doi10.1016/j.ejpn.2014.03.003en_US
dc.identifier.pmid24657014-
dc.identifier.scopuseid_2-s2.0-84903167386-
dc.identifier.hkuros238998en_US
dc.identifier.hkuros234059-
dc.identifier.volume18en_US
dc.identifier.spage532en_US
dc.identifier.epage535en_US
dc.identifier.isiWOS:000338825000014-

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