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Article

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Advances in experimental medicine and biology - 1 Jan 2012

Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen P

Abstract excerpt

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Share to Adaptor Proteins, Signal Transducing
Share to Calmodulin-Binding Proteins
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22183348
DOI: 10.1007/978-1-4614-0631-0_41
PMCID: PMC4114075

Genes

IQCB1
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.PMID 22183348Read ↗

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Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.Semantic proximity Read ↗

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