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AuthorKhan, Sher Alamdc.contributor.author
AuthorKhan, Muhammad Adnandc.contributor.author
AuthorMuhammad, Nazifdc.contributor.author
AuthorBashir, Hinadc.contributor.author
AuthorKhan, Niamatdc.contributor.author
AuthorMuhammad, Noordc.contributor.author
AuthorYilmaz, Rustemdc.contributor.author
AuthorKhan, Saadullahdc.contributor.author
AuthorWasif, Naveeddc.contributor.author
Date of accession2021-01-13T09:29:57Zdc.date.accessioned
Available in OPARU since2021-01-13T09:29:57Zdc.date.available
Date of first publication2020dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
KeywordAmelogenesis imperfectadc.subject
KeywordExome sequencingdc.subject
KeywordNon-syndromicdc.subject
KeywordNonsense variantdc.subject
KeywordACID-PHOSPHATASEdc.subject
KeywordMUTATIONSdc.subject
KeywordEXCHANGERdc.subject
KeywordDELETIONdc.subject
KeywordEXPRESSIONdc.subject
KeywordLAMB3dc.subject
KeywordDEFECTSdc.subject
KeywordMATRIXdc.subject
KeywordACPTdc.subject
Dewey Decimal GroupDDC 570 / Life sciencesdc.subject.ddc
TitleA novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani familydc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Institut für Humangenetikuulm.affiliationSpecific
InstitutionUKU. Klinik für Neurologieuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1186/s12881-020-01038-6dc.identifier.doiExternal
Source - Title of sourceBMC Medical Geneticssource.title
Source - Place of publicationBMCsource.publisher
Source - Volume21source.volume
Source - Issue1source.issue
Source - Year2020source.year
Source - Article number97source.articleNumber
Source - eISSN1471-2350source.identifier.eissn
Open AccessDOAJ Gold, Green Publisheduulm.OA
CommunityUniversitätsklinikum Ulmuulm.community
WoS000533943200003uulm.identifier.wos
Bibliographyuulmuulm.bibliographie


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