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Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement.

Brain & development - 1 Oct 2002

Gu Yan-hong, Kodama Hiroko, Sato Emi, Mochizuki Daishi, Yanagawa Yukishige, Takayanagi Masaki, Sato Kodo, Ogawa Atsushi, Ushijima Hiroshi, Lee Cheng-Chun

Abstract excerpt

Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers. Two unrelated patients showed the same mutation (R986X): one patient's mother was a carrier...

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PMID: 12427520
DOI: 10.1016/s0387-7604(02)00093-1

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

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