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Article

The first reported case of Menkes disease caused by an Alu insertion mutation.

Brain & development - 1 Mar 2007

Gu YanHong, Kodama Hiroko, Watanabe Shigero, Kikuchi Nobuyuki, Ishitsuka Ineo, Ozawa Hiroshi, Fujisawa Chie, Shiga Katsuaki

Abstract excerpt

We present the first reported case of Menkes disease caused by an Alu element insertion mutation that interfered with splicing regulatory elements. A whole young AluYa5a2 element, which was 382-bp long, was identified within exon 9 of the ATP7A gene, and all of exon 9 was aberrantly skipped in th...

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Identifiers

PMID: 17178205
DOI: 10.1016/j.braindev.2006.05.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17178205-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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