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Article

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Genetic testing and molecular biomarkers - 1 Feb 2017

Ramkumar Hema L, Gudiseva Harini V, Kishaba Kameron T, Suk John J, Verma Rohan, Tadimeti Keerti, Thorson John A, Ayyagari Radha

Abstract excerpt

AIM: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. DNA was isolated, and all exons...

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Source

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Identifiers

PMID: 28005406
DOI: 10.1089/gtmb.2016.0251
PMCID: PMC5327051

Genes

ABCA4
BEST1
PRPH2
CRB1
TIMP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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