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Article

The expanding roles of ABCA4 and CRB1 in inherited blindness.

Novartis Foundation symposium - 1 Jan 2004

Cremers F P M, Maugeri A, den Hollander A I, Hoyng C B

Abstract excerpt

Mutations in the ABCA4 gene cause Stargardt disease (STGD), most cases with autosomal recessive (ar) cone-rod dystrophy (CRD), and some cases with atypical ar retinitis pigmentosa (arRP). We found compound heterozygous ABCA4 mutations in two unrelated patients with STGD and homozygous splice site mutations in their 2nd and 4th degree cousins with RP. Some ABCA4 mutations display strong founder effects. In Dutch...

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Source

Identifiers

PMID: 14750597
DOI: 10.1002/0470092645.ch6

Genes

ABCA4
CRB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The expanding roles of ABCA4 and CRB1 in inherited blindness.PMID 14750597Read ↗

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Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.Semantic proximity Read ↗

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