Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
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Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic ManifestationGenomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
P2860
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P2860
Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
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2015 nî lūn-bûn
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name
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@ast
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@en
type
label
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@ast
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@en
prefLabel
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@ast
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@en
P2093
P2860
P1433
P1476
Complex inheritance of ABCA4 d ...... h multiple macular phenotypes.
@en
P2093
James R Lupski
Jana Zernant
Rando Allikmets
Srilaxmi Bearelly
Stephen H Tsang
Winston Lee
Yajing Xie
P2860
P2888
P356
10.1007/S00439-015-1605-Y
P577
2015-11-02T00:00:00Z