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Article

Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse.

DNA research : an international journal for rapid publication of reports on genes and genomes - 31 Aug 1997

Bona C A, Murai C, Casares S, Kasturi K, Nishimura H, Honjo T, Matsuda F

Abstract excerpt

Mice carrying the tight skin (TSK) mutation harbors a 3.0-kb genomic duplication (exons 17-40) of the fibrillin-1 gene (Fbn-1) located on band F of chromosome 2 as TSK mutation. We cloned and sequenced the mutated Fbn-1 gene, since it is believed to be responsible for TSK syndrome. Sequence analysis showed numerous amino acid differences in the 5' and 3' segments between the TSK mutation and wild-type fbn-1 gene,...

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PMID: 9405934
DOI: 10.1093/dnares/4.4.267

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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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