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Article

Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

Journal of inherited metabolic disease - 1 Jun 1998

Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans H S, Tabak H F, Distel B, Wanders R J

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Identifiers

PMID: 9686382
DOI: 10.1023/a:1005301112923

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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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