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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/99429
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dc.contributor.authorHa, T.-
dc.contributor.authorSadleir, L.-
dc.contributor.authorMandelstam, S.-
dc.contributor.authorPaterson, S.-
dc.contributor.authorScheffer, I.-
dc.contributor.authorGecz, J.-
dc.contributor.authorCorbett, M.-
dc.date.issued2016-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2016; 170(4):1059-1063-
dc.identifier.issn1552-4833-
dc.identifier.issn1552-4833-
dc.identifier.urihttp://hdl.handle.net/2440/99429-
dc.description.abstractAbstract not available-
dc.description.statementofresponsibilityThuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz and Mark A. Corbett-
dc.language.isoen-
dc.publisherWiley-
dc.rights© 2015 Wiley Periodicals, Inc.-
dc.source.urihttp://dx.doi.org/10.1002/ajmg.a.37527-
dc.subjectCOL4A1-
dc.subjectCOL4A2-
dc.subjectporencephaly-
dc.subjectepilepsy-
dc.subjectcataracts-
dc.subjectautosomal dominant-
dc.titleA mutation in COL4A2 causes autosomal dominant porencephaly with cataracts-
dc.typeJournal article-
dc.identifier.doi10.1002/ajmg.a.37527-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/628952-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1041920-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1006110-
pubs.publication-statusPublished-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]-
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Medicine publications

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