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Article

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.

Molecular vision - 1 Jan 2014

Contestabile Maria T, Piane Maria, Cascone Nikhil C, Pasquale Nadia, Ciarnella Angela, Recupero Santi M, Chessa Luciana

Abstract excerpt

PURPOSE: To describe the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene. METHODS: We performed a comprehensive ophthalmologic examination, fundus photography, macular optical coherence tomography, perimetry, electroretinography, and fluorescein angiography in an Italian family. The clinical diagnosis was supported by western blot analysis of lymphoblastoid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24672218
PMCID: PMC3962727

Genes

CHM

Provenance

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