Table_1.xls (9.5 kB)
Clinical characteristics of affected family members.
dataset
posted on 2014-12-29, 20:31 authored by María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo# Consanguineous family
†Previously reported by Maugeri et al. [24] in a Stargardt patient in heterozygous state.
‡Previously reported by Lewis et al. [25] in a Stargardt patient in heterozygous state.
¥Previously reported by Vervoort et al. [23].
N.A.: Not available.
N.R.: Not recordable.
Clinical characteristics of affected family members.
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exome sequencingRPGR mutation.6088Cdiagnosis programwesInherited Retinal Dystrophiescontrol populationrhoarrpautosomal recessive RPmacular involvementSpanish familiesfilter criteriaSanger sequencingORF 15.2041CRecurrent Mutationscarrier sistersXLRPStargardt diseaseadrpRetinitis PigmentosaClinical SignificanceinheritanceC 2orfp.RC 2orf c .1795T p.Cys 599ArgNimbleGen SeqCap EZ Exome V 3 sample preparation kitSOLID 5500 xl platformABCA 4 mutations
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