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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2504605

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

About this item

Full title

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

Publisher

New York: Springer-Verlag

Journal title

Journal of the Association for Research in Otolaryngology, 2008-06, Vol.9 (2), p.202-214

Language

English

Formats

Publication information

Publisher

New York: Springer-Verlag

More information

Scope and Contents

Contents

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 are associated with the dominan...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2504605

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2504605

Other Identifiers

ISSN

1525-3961

E-ISSN

1438-7573

DOI

10.1007/s10162-008-0116-0

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