A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers

1 December 2004

journal article
case report
Published by Association for Research in Vision and Ophthalmology (ARVO) in Investigative Opthalmology & Visual Science

Vol. 45 (12) , 4433-4439
https://doi.org/10.1167/iovs.04-0544

Abstract

Purpose. To identify possible mutations in known candidate genes in patients with autosomal recessive (ar) and simplex retinitis pigmentosa (RP), by using an established strategy of flexible, multiplexed, microsatellite-based homozygosity mapping.

Keywords

CANDIDATE GENES
SPECTRUM
PHENOTYPIC
RETINITIS PIGMENTOSA
BASED HOMOZYGOSITY
MICROSATELLITE MARKERS
AUTOSOMAL RECESSIVE

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