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Article

An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.

Investigative ophthalmology & visual science - 1 Sept 2010

Farias Fabiana H G, Johnson Gary S, Taylor Jeremy F, Giuliano Elizabeth, Katz Martin L, Sanders Douglas N, Schnabel Robert D, McKay Stephanie D, Khan Shahnawaz, Gharahkhani Puya, O'Leary Caroline A, Pettitt Louise, Forman Oliver P, Boursnell Mike, McLaughlin Bryan, Ahonen Saija, Lohi Hannes, Hernandez-Merino Elena, Gould David J, Sargan David R, Mellersh Cathryn

Abstract excerpt

PURPOSE: To identify the genetic cause of isolated canine ectopia lentis, a well-characterized veterinary disease commonly referred to as primary lens luxation (PLL) and to compare the canine disease with a newly described human Weill-Marchesani syndrome (WMS)-like disease of similar genetic etio...

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Source

Identifiers

PMID: 20375329
DOI: 10.1167/iovs.09-5142

Genes

ADAMTS17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20375329-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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