Elucidation of repeat motifs R1‐ and R2‐related <i>TRIOBP</i> variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals-Reference-Cited by-同舟云学术

Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

Published:2022-08-27 Issue:10 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Kabahuma Rosemary Ida¹²^ORCID,Schubert Wolf‐Dieter²,Labuschagne Christiaan³,Yan Denise⁴,Pepper Michael Sean⁵^ORCID,Liu Xue‐Zhong⁴

Affiliation:

1. Department of Otorhinolaryngology University of Pretoria Pretoria South Africa

2. Departments of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences University of Pretoria Pretoria South Africa

3. Inqaba Biotechnology Pretoria South Africa

4. Department of Otolaryngology University of Miami Miller School of Medicine Miami Florida USA

5. Institute for Cellular and Molecular Medicine, Department of Immunology and SAMRC Extramural Unit for Stem Cell Research and Therapy, Faculty of Health Sciences University of Pretoria Pretoria South Africa

Funder

National Institute on Deafness and Other Communication Disorders

South African Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2015

Reference24 articles.

1. R1 Motif Is the Major Actin-Binding Domain of TRIOBP-4

2. Wrapping up Stereocilia Rootlets

3. Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

4. Autosomal recessive nonsyndromic hearing loss: A case report with a mutation in TRIOBP gene;Fardaei M.;International Journal of Molecular and Cellular Medicine,2015

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