Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53-Reference-Cited by-同舟云学术

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Published:2015-01-30 Issue:4 Volume:290 Page:1327-1334
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Chakchouk Imen,Grati M’hamed,Bademci Guney,Bensaid Mariem,Ma Qi,Chakroun Amine,Foster Joseph,Yan Denise,Duman Duygu,Diaz-Horta Oscar,Ghorbel Abdelmonem,Mittal Rahul,Farooq Amjad,Tekin Mustafa,Masmoudi Saber,Liu Xue Zhong

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-015-0995-9.pdf

Reference19 articles.

1. Carson M (1991) Ribbons 2.0. J Appl Crystallogr 24:958–961

2. Chakchouk I, Ben Said M, Jbeli F et al (2015) NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries. J Mol Diagn. doi: 10.1016/j.jmoldx.2014.11.003

3. Chen W, Kahrizi K, Meyer NC et al (2005) Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet 42:e61

4. Diaz-Horta O, Duman D, Foster J et al (2012) Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS ONE 7:e50628

5. Kimura T, Cheah KS, Chan SD et al (1989) The human α2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization. J Biol Chem 264:13910–13916

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