Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- 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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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing ; volume:8 ; number:1 ; day:8 ; month:8 ; year:2013 ; pages:1-11 ; date:12.2013
Orphanet journal of rare diseases ; 8, Heft 1 (8.8.2013), 1-11, 12.2013
- Creator
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Steele-Stallard, Heather B.
- Contributor
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Le Quesne Stabej, Polona
Lenassi, Eva
Luxon, Linda M.
Claustres, Mireille
Roux, Anne-Françoise
Webster, Andrew R.
Bitner-Glindzicz, Maria
SpringerLink (Online service)
- DOI
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10.1186/1750-1172-8-122
- URN
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urn:nbn:de:1111-2016050122884
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:55 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Steele-Stallard, Heather B.
- Le Quesne Stabej, Polona
- Lenassi, Eva
- Luxon, Linda M.
- Claustres, Mireille
- Roux, Anne-Françoise
- Webster, Andrew R.
- Bitner-Glindzicz, Maria
- SpringerLink (Online service)
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