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Article: Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing

TitleRapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing
Authors
Ho, CTai, SLee, ECMak, SHTLiu, TKTang, VWPoon, WT
KeywordsCharcot-marie-tooth disease (CMT)
Gene panel
Hereditary motor and sensory neuropathy (HMSN)
Next-generation sequencing (NGS)
Pathogenic variants
Issue Date2017
PublisherMolecular Diversity Preservation International. The Journal's web site is located at http://www.mdpi.org/ijms
Citation
International Journal of Molecular Sciences, 2017, v. 18, p. 770 How to Cite?
DOI: http://dx.doi.org/10.3390/ijms18040770
Persistent Identifierhttp://hdl.handle.net/10722/247628
ISSN
1422-0067
2022 Impact Factor: 5.6
2020 SCImago Journal Rankings: 1.455
ISI Accession Number ID
WOS:000402639400094

 

DC FieldValueLanguage
dc.contributor.authorHo, C-
dc.contributor.authorTai, S-
dc.contributor.authorLee, EC-
dc.contributor.authorMak, SHT-
dc.contributor.authorLiu, TK-
dc.contributor.authorTang, VW-
dc.contributor.authorPoon, WT-
dc.date.accessioned2017-10-18T08:30:09Z-
dc.date.available2017-10-18T08:30:09Z-
dc.date.issued2017-
dc.identifier.citationInternational Journal of Molecular Sciences, 2017, v. 18, p. 770-
dc.identifier.issn1422-0067-
dc.identifier.urihttp://hdl.handle.net/10722/247628-
dc.languageeng-
dc.publisherMolecular Diversity Preservation International. The Journal's web site is located at http://www.mdpi.org/ijms-
dc.relation.ispartofInternational Journal of Molecular Sciences-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectCharcot-marie-tooth disease (CMT)-
dc.subjectGene panel-
dc.subjectHereditary motor and sensory neuropathy (HMSN)-
dc.subjectNext-generation sequencing (NGS)-
dc.subjectPathogenic variants-
dc.titleRapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing-
dc.typeArticle-
dc.identifier.emailMak, SHT: tshmak@hku.hk-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3390/ijms18040770-
dc.identifier.scopuseid_2-s2.0-85017233639-
dc.identifier.hkuros280800-
dc.identifier.volume18-
dc.identifier.spage770-
dc.identifier.epage770-
dc.identifier.isiWOS:000402639400094-
dc.publisher.placeSwitzerland-
dc.identifier.issnl1422-0067-

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