Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Item
http://www.wikidata.org/entity/Q57784329
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAutosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.Deep intronic mutations and human disease.Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.Retinal miRNAs variations in a large cohort of inherited retinal disease.Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortSearching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Item
http://www.wikidata.org/entity/Q57784329
description
im Dezember 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2014
@uk
name
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@en
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@nl
type
label
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@en
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@nl
prefLabel
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@en
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Heterozygous Deep-Intronic Var ...... ies and One ExonicABCA4Variant
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698