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Article

Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.

Human molecular genetics - 1 Mar 2007

Rodgers Kathryn D, Sasaki Takako, Aszodi Attila, Jacenko Olena

Abstract excerpt

Perlecan knock-in mice were developed to model Schwartz-Jampel syndrome (SJS), a skeletal disease resulting from decreased perlecan. Two mouse strains were generated: those carrying a C-to-Y mutation at residue 1532 and the neomycin cassette (C1532Yneo) and those harboring the mutation alone (C15...

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Identifiers

PMID: 17213231
DOI: 10.1093/hmg/ddl484

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17213231-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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