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Article

[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].

Nihon rinsho. Japanese journal of clinical medicine - 1 Jan 1996

Narisawa K, Suzuki Y, Aoki Y

Abstract excerpt

Holocarboxylase synthetase (HCS) plays an essential role in biotin utilization in cells and its deficiency causes biotin-responsive multiple carboxylase deficiency in humans. We have cloned the human HCS cDNA, which maps to chromosome 21q22.1. Two mutations in the HCS genes of Japanese patients w...

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PMID: 8587199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8587199-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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