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Article

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

JAMA ophthalmology - 1 Feb 2015

Riveiro-Álvarez Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Ávila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, Yuan Bo, Boerwinkle Eric, Gibbs Richard, Lupski James R, Ayuso Carmen, Allikmets Rando

Abstract excerpt

IMPORTANCE: The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently discovered gene associated with CRD. OBJECTIVE: To determine the disease-causing gene in 2 families of Spanish descent presenting with CRD who do not have ABCA4 mutations. DESIGN, SETTING, AND PARTICIPANTS: Molecular genetics and observational case studies of 2...

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Source

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Identifiers

PMID: 25356532
DOI: 10.1001/jamaophthalmol.2014.4266
PMCID: PMC4351871

Genes

RAB28
ABCA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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