Nalaganje...
Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting
Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites to...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Investigative Pathology
2011
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3123795/ https://ncbi.nlm.nih.gov/pubmed/21704276 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2011.03.003 |
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