Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family
The MARVELD2 gene is located on chromosome 5q13.2 and is associated with autosomal recessive nonsyndromic hearing loss (OMIM: # 610572). In this study, we identified and reported a novel nonsense mutation in MARVELD2 c. 663G > A in a Chinese family. We collected peripheral venous blood from 19 me...
Gorde:
| Egile Nagusiak: | , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2024-12-01
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| Saila: | Frontiers in Genetics |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1507600/full |
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