WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations-Reference-Cited by-同舟云学术

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

Published:2015-11-23 Issue:2 Volume:37 Page:184-193
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Liquori Alessandro¹,Vaché Christel¹²,Baux David¹²,Blanchet Catherine³⁴,Hamel Christian⁴,Malcolm Sue⁵,Koenig Michel¹²,Claustres Mireille¹²,Roux Anne-Françoise¹²

Affiliation:

1. Laboratoire de Génétique de Maladies Rares EA 7402; Université de Montpellier; Montpellier France

2. Laboratoire de Génétique Moléculaire; CHRU Montpellier; Montpellier France

3. Service ORL; CHRU Montpellier; Montpellier France

4. CHU Montpellier, Centre National de Référence Maladies Rares; “Affections Sensorielles Génétiques; France

5. Genetics and Genomic Medicine Programme; Institute of Child Health, UCL; London UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22926/fullpdf

Reference45 articles.

1. Audiological findings in 100 USH2 patients;Abadie;Clin Genet,2012

2. Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots;Baux;Hum Mutat,2014

3. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in usher type II patients;Baux;Hum Mutat,2007

4. Experience of targeted Usher exome sequencing as a clinical test;Besnard;Mol Genet Genomic Med,2014

5. Non-USH2A mutations in USH2 patients;Besnard;Hum Mutat,2012

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