Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

scientific article published on 01 September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1167/IOVS.18-24817
P698PubMed publication ID30193310

P50authorCaroline Van CauwenberghQ57650123
Frauke CoppietersQ59140000
P2093author name stringHester Y Kroes
Bart P Leroy
Caroline C W Klaver
L Ingeborgh van den Born
Birgit Lorenz
Carel B Hoyng
Mary J van Schooneveld
Rob W J Collin
Mette Bertelsen
Markus Preising
Alberta A H J Thiadens
Jan-Willem R Pott
Dyon Valkenburg
Julie de Zaeytijd
Mies M van Genderen
P275copyright licenseCreative Commons Attribution-NonCommercial-NoDerivs 4.0 InternationalQ24082749
P6216copyright statuscopyrightedQ50423863
P433issue11
P921main subjectretinal diseaseQ550455
P304page(s)4384-4391
P577publication date2018-09-01
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleClinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290
P478volume59

Reverse relations

cites work (P2860)
Q89450355Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Q90152961Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
Q92850956Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

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