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Article

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Advances in experimental medicine and biology - 1 Jan 2016

Daiger Stephen P, Sullivan Lori S, Bowne Sara J, Koboldt Daniel C, Blanton Susan H, Wheaton Dianna K, Avery Cheryl E, Cadena Elizabeth D, Koenekoop Robert K, Fulton Robert S, Wilson Richard K, Weinstock George M, Lewis Richard A, Birch David G

Abstract excerpt

Whole-genome linkage mapping identified a region on chromosome 10q21.3-q22.1 with a maximum LOD score of 3.0 at 0 % recombination in a six-generation family with autosomal dominant retinitis pigmentosa (adRP). All known adRP genes and X-linked RP genes were excluded in the family by a combination of methods. Whole-exome next-generation sequencing revealed a missense mutation in hexokinase 1, HK1 c.2539G > A,...

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Source

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Identifiers

PMID: 26427411
DOI: 10.1007/978-3-319-17121-0_26
PMCID: PMC4906966

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).PMID 26427411Read ↗

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