Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing
<p>Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and vDFNB7/11, respectively. Here, we characterized a 5-year old girl with severe sensorineural hearing loss. By combining targeted capture...
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Format: | Book |
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Scientific Journal of Genetics and Gene Therapy - Peertechz Publications,
2016-07-08.
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