Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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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
- Urheber
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Steele-Stallard, Heather B.
- Beteiligte Personen und Organisationen
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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
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:55 MESZ
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Beteiligte
- 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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