Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome
Article
Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller-Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017) Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Molecular Genetics & Genomic Medicine 5 (5), pp. 531-552.Alternative links to fulltext
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| Item type | Article | ||||
| Journal or Publication Title | Molecular Genetics & Genomic Medicine | ||||
| Publisher | Wiley | ||||
| Place of Publication | HOBOKEN | ||||
| Volume | 5 | ||||
| Number of Issue or Book Chapter | 5 | ||||
| Page Range | pp. 531-552 | ||||
| Date | 2017 | ||||
| Date of publication | 20 Mar 2019 13:00 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | SYNDROME TYPE IIA; SYNDROME TYPE-I; PEROXISOME-BIOGENESIS DISORDERS; RECESSIVE RETINITIS-PIGMENTOSA; GENOTYPE-PHENOTYPE CORRELATION; INHERITED RETINAL DYSTROPHY; ADULT REFSUM-DISEASE; MYOSIN VIIA GENE; S-CONE-SYNDROME; USH2A GENE; Copy number variation; Heimler syndrome; next-generation sequencing; phenocopies; translational read-through; Usher syndrome | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 39192 |
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