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Article

Butterfly-Shaped Pattern Dystrophy

1 Apr 2002

Abstract excerpt

OBJECTIVES: To identify the disease-causing mutation in a large family segregating dominantly inherited butterfly-shaped pattern dystrophy (BPD) and to describe the microscopic pathological changes observed in a member of this family. METHODS: Seventeen individuals at risk for dominantly inherited BPD in a family were examined and blood samples obtained. Linkage analysis and mutation screening of the human...

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PMID: 11934323
DOI: 10.1001/archopht.120.4.485

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