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Article

[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].

Klinische Monatsblatter fur Augenheilkunde - 1 Aug 2002

Rudolph Günther, Kalpadakis Petros, Haritoglou Christos, Rivera Andrea, Weber Bernhard H F

Abstract excerpt

BACKGROUND: Demonstrating the types of ABCA4 mutations in the STGD1 gene in a family manifesting both Stargardt's disease and retinitis pigmentosa (RP19). METHODS: Clinical ophthalmological examination included funduscopy, ERG, Arden Colour contrast test, fluorescein angiography in one patient, perimetry and SLO perimetry. The 50 exons of the ABCA4 gene were screened using a combination of denaturating gradient...

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Source

Identifiers

PMID: 12353176
DOI: 10.1055/s-2002-34425

Genes

ABCA4
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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