Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for

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Veröffentlicht in:	Molecular genetics & genomic medicine 2020-07, Vol.8 (7), p.e1259-n/a
Hauptverfasser:	Huang, Di, Thompson, Jennifer A., Charng, Jason, Chelva, Enid, McLenachan, Samuel, Chen, Shang‐Chih, Zhang, Dan, McLaren, Terri L., Lamey, Tina M., Constable, Ian J., De Roach, John N., Aung‐Htut, May Thandar, Adams, Abbie, Fletcher, Sue, Wilton, Steve D., Chen, Fred K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine triphosphate ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism ATP‐binding cassette subfamily A member 4 (ABCA4) Biopsy Cell culture Cells, Cultured Defects Deoxyribonucleic acid Diabetic retinopathy DNA Dystrophy Ethics Evaluation Fibroblasts Gene deletion Gene sequencing Genes Genes, Dominant Genetic analysis Genetic variability Genomics Genotypes genotype‐phenotype correlations Humans In vitro methods and tests INDEL Mutation Insertion Laboratories Male Middle Aged Mutation Nonsense mutation Nucleotides Original Pathogenicity Pathogens Pedigree Phenotype Phenotypes Proteins pseudodominant inheritance Retina Ribonucleic acid RNA RNA Splicing Software Splicing splicing defect Stargardt Disease - genetics Stargardt Disease - pathology variant pathogenicity
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Beschreibung
Zusammenfassung:	Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for
ISSN:	2324-9269 2324-9269
DOI:	10.1002/mgg3.1259