Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family ; volume:17 ; number:1 ; day:20 ; month:7 ; year:2016 ; pages:1-9 ; date:12.2016
BMC medical genetics ; 17, Heft 1 (20.7.2016), 1-9, 12.2016
- Creator
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Carstens, Nadia
- Contributor
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Williams, Susan
Goolam, Saadiah
Carmichael, Trevor
Cheung, Ming Sin
Büchmann-Møller, Stine
Sultan, Marc
Staedtler, Frank
Zou, Chao
Swart, Peter
Rice, Dennis S.
Lacoste, Arnaud
Paes, Kim
Ramsay, Michèle
SpringerLink (Online service)
- DOI
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10.1186/s12881-016-0308-0
- URN
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urn:nbn:de:1111-201607231477
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:51 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Carstens, Nadia
- Williams, Susan
- Goolam, Saadiah
- Carmichael, Trevor
- Cheung, Ming Sin
- Büchmann-Møller, Stine
- Sultan, Marc
- Staedtler, Frank
- Zou, Chao
- Swart, Peter
- Rice, Dennis S.
- Lacoste, Arnaud
- Paes, Kim
- Ramsay, Michèle
- SpringerLink (Online service)
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Trehalose extricates impaired mitochondrial and autophagy dysregulation in patient iPSC-derived macular corneal dystrophy disease model
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Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
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Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
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