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Article

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.

Biochemical and biophysical research communications - 13 Mar 2009

Sato Naoyuki, Nakayama Tomohiro, Mizutani Yoshihiro, Yuzawa Mitsuko

Abstract excerpt

Angioid streaks (AS) are eye abnormalities caused by breaks in Bruch's membrane. The condition is often associated with pseudoxanthoma elasticum (PXE). The ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6) is reported to be the causal gene for PXE, although there have been no reports on whether the ABCC6 gene is the causal gene for AS. The aims of this study are to isolate the causal mutations for...

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Source

Identifiers

PMID: 19284998
DOI: 10.1016/j.bbrc.2009.01.117

Genes

ABCC6
CFTR

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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