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Article: Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

TitleExome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
Authors
Wang, XXin, QLi, LLi, JZhang, CQiu, RQian, CZhao, HLiu, YShan, HDang, JBian, XShao, CGong, YLiu, Q
KeywordsDLX5
gene mutation
SHFM1
Issue Date2014
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal of Human Genetics, 2014, v. 22 n. 9, p. 1105-1110 How to Cite?
DOI: http://dx.doi.org/10.1038/ejhg.2014.7
Persistent Identifierhttp://hdl.handle.net/10722/191276
ISSN
1018-4813
2023 Impact Factor: 3.7
2023 SCImago Journal Rankings: 1.538
PubMed Central ID
PMC4135423
ISI Accession Number ID
WOS:000340577600009

 

DC FieldValueLanguage
dc.contributor.authorWang, Xen_US
dc.contributor.authorXin, Qen_US
dc.contributor.authorLi, Len_US
dc.contributor.authorLi, Jen_US
dc.contributor.authorZhang, Cen_US
dc.contributor.authorQiu, Ren_US
dc.contributor.authorQian, Cen_US
dc.contributor.authorZhao, Hen_US
dc.contributor.authorLiu, Yen_US
dc.contributor.authorShan, Hen_US
dc.contributor.authorDang, Jen_US
dc.contributor.authorBian, Xen_US
dc.contributor.authorShao, Cen_US
dc.contributor.authorGong, Yen_US
dc.contributor.authorLiu, Qen_US
dc.date.accessioned2013-10-15T06:52:04Z-
dc.date.available2013-10-15T06:52:04Z-
dc.date.issued2014-
dc.identifier.citationEuropean Journal of Human Genetics, 2014, v. 22 n. 9, p. 1105-1110en_US
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/191276-
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg-
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.subjectDLX5-
dc.subjectgene mutation-
dc.subjectSHFM1-
dc.titleExome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformationen_US
dc.typeArticleen_US
dc.identifier.emailQian, C: cmqian@hku.hken_US
dc.identifier.authorityQian, C=rp01371en_US
dc.identifier.doi10.1038/ejhg.2014.7-
dc.identifier.pmid24496061-
dc.identifier.pmcidPMC4135423-
dc.identifier.scopuseid_2-s2.0-84906263906-
dc.identifier.hkuros225912en_US
dc.identifier.volume22-
dc.identifier.issue9-
dc.identifier.spage1105-
dc.identifier.epage1110-
dc.identifier.isiWOS:000340577600009-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl1018-4813-

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