A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family-Reference-Cited by-同舟云学术

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Published:2015-10-29 Issue:1 Volume:2 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Uehara Daniela T,Freitas Érika L,Alves Leandro U,Mazzeu Juliana F,Auricchio Maria TBM,Tabith Alfredo,Monteiro Mário LR,Rosenberg Carla,Mingroni-Netto Regina C

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201538.pdf

Reference29 articles.

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2. Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, Foster Ii J et al. Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genet Test Mol Biomarkers 2014; 18: 658–661.

3. Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT et al. Chromosome imbalances in syndromic hearing loss. Clin Genet 2009; 76: 458–464.

4. Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE et al. Copy number variants are a common cause of non-syndromic hearing loss. Genome Med 2014; 6: 37.

5. Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999; 96: 437–446.

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