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Article

Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa.

The Laryngoscope - 1 Jul 2004

Cohn Edward, Bhattacharya Gautam, Pearsall Nicole, Shendrik Igor, Kimberling William, Cosgrove Dominic

Abstract excerpt

OBJECTIVES/HYPOTHESIS: Patients having null mutations in the USH2A gene do not produce usherin and therefore are not positive for immunohistochemical staining of the usherin protein. Thus, immunostaining for usherin can serve as a reliable diagnostic tool for Usher syndrome type IIa. STUDY DESIGN...

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Identifiers

PMID: 15235367
DOI: 10.1097/00005537-200407000-00032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15235367-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa.PMID 15235367Read ↗

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Pathogenesis and Treatment of Usher Syndrome Type IIA.Semantic proximity Read ↗

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