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Article

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Ophthalmology - 1 Jul 2011

Khan Muhammad Imran, Kersten Ferry F J, Azam Maleeha, Collin Rob W J, Hussain Alamdar, Shah Syed Tahir-A, Keunen Jan E E, Kremer Hannie, Cremers Frans P M, Qamar Raheel, den Hollander Anneke I

Abstract excerpt

OBJECTIVE: To describe the mutations in the CLRN1 gene in patients from 2 consanguineous Pakistani families diagnosed with autosomal recessive retinitis pigmentosa (arRP). DESIGN: Case-series study. PARTICIPANTS: Affected and unaffected individuals of 2 consanguineous Pakistani families and 90 unaffected controls from the same population. Informed consent was obtained from participants and the protocol was...

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Source

Identifiers

PMID: 21310491
DOI: 10.1016/j.ophtha.2010.10.047

Genes

CLRN1
ERG

Variants

Provenance

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Related research

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