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1 Ergebnisse
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Screening for duplications, deletions and a common intronic..:
Steele-Stallard, Heather
;
Le Quesne Stabej, Polona
;
Lenassi, Eva
...
info:eu-repo/semantics/altIdentifier/doi/10.1186/1750-1172-8-122. , 2013
Link:
https://inserm.hal.science/inserm-00851699
RT Journal T1
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
UL https://suche.suub.uni-bremen.de/peid=base-ftunimontpellier:oai:HAL:inserm-00851699v1&Exemplar=1&LAN=DE A1 Steele-Stallard, Heather A1 Le Quesne Stabej, Polona A1 Lenassi, Eva A1 Luxon, Linda A1 Claustres, Mireille A1 Roux, Anne-Francoise A1 Webster, Andrew A1 Bitner-Glindzicz, Maria PB HAL CCSD; BioMed Central YR 2013 K1 Usher syndrome K1 USH2A K1 Deletion K1 Duplication K1 Pseudoexon K1 Multiplex ligation dependant probe amplification (MLPA) K1 Array CGH K1 [SDV.GEN]Life Sciences [q-bio]/Genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1186/1750-1172-8-122 LK http://dx.doi.org/https://inserm.hal.science/inserm-00851699 DO https://inserm.hal.science/inserm-00851699 SF ELIB - SuUB Bremen
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