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Article

Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.

Journal of inherited metabolic disease - 1 Jan 1995

Goebel-Schreiner B, Schreiner R, Hoffmann G F, Gibson K M

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PMID: 7564245
DOI: 10.1007/BF00711765

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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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