Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss-Reference-Cited by-同舟云学术

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss

Published:2020-07 Issue:7 Volume:47 Page:5355-5364
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Sarmadi Akram,Nasrniya Samane,Narrei Sina,Nouri Zahra,Abtahi Hamidreza,Tabatabaiefar Mohammad Amin^ORCID

Funder

Isfahan University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-020-05618-w.pdf

Reference50 articles.

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2. Babanejad M, Fattahi Z, Bazazzadegan N, Nishimura C, Meyer N, Nikzat N et al (2012) A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. Am J Med Genet Part A 158(10):2485–2492

3. Krendel M, Mooseker MS (2005) Myosins: tails (and heads) of functional diversity. Physiology. 20(4):239–251

4. Kalay E, Uzumcu A, Krieger E, Çaylan R, Uyguner O, Ulubil-Emiroglu M et al (2007) MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet Part A 143(20):2382–2389

5. Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM et al (2000) The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum Mol Genet 9(12):1729–1738

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