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Article

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal of medical genetics - 1 Jun 2017

Zernant Jana, Lee Winston, Collison Frederick T, Fishman Gerald A, Sergeev Yuri V, Schuerch Kaspar, Sparrow Janet R, Tsang Stephen H, Allikmets Rando

Abstract excerpt

BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of ABCA4 identifies biallelic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28446513
DOI: 10.1136/jmedgenet-2017-104540
PMCID: PMC5786429

Genes

ABCA4
MAF

Variants

Provenance

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