Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

The TECTA gene encodes alpha-tectorin (TECTA), a major noncollagenous component of the tectorial membrane (TM). In humans, mutations in TECTA lead to either dominant (DFNA8/A12) or recessive (DFNB21) forms of nonsyndromic hearing loss. All missense mutations in TECTA that have been reported thus far...

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Hlavní autoři: Moreno-Pelayo, Miguel Ángel, Goodyear, Richard J., Mencía, Angeles, Modamio-Høybjør, Silvia, Legan, P. Kevin, Olavarrieta, Leticia, Moreno, Felipe, Richardson, Guy P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer-Verlag 2008
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2504605/
https://ncbi.nlm.nih.gov/pubmed/18452040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10162-008-0116-0
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