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

BACKGROUND: DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM #609761) on chromosome 22q13. Its protein TRIOBP helps to tightly bundle F‐actin filaments, forming a rootlet that penetrates through the cuticular plate into the cochl...

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Detalles Bibliográficos
Autores principales: Kabahuma, Rosemary Ida, Schubert, Wolf‐Dieter, Labuschagne, Christiaan, Yan, Denise, Pepper, Michael Sean, Liu, Xue‐Zhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544205/
https://www.ncbi.nlm.nih.gov/pubmed/36029164
http://dx.doi.org/10.1002/mgg3.2015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544205/
https://www.ncbi.nlm.nih.gov/pubmed/36029164
http://dx.doi.org/10.1002/mgg3.2015

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