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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

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.

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Other URL: http://doi.org/10.1002/mgg3.312

Dieser Artikel ist in einer Zeitschrift aus dem Directory of Open Access (DOAJ) publiziert.


Abstract

BackgroundCombined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). MethodsSanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/mgg3.312DOI
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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