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Article

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

American journal of human genetics - 1 Oct 1990

Cremers F P, Sankila E M, Brunsmann F, Jay M, Jay B, Wright A, Pinckers A J, Schwartz M, van de Pol D J, Wieringa B

Abstract excerpt

Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel electrophoresis, and cloning of a deletion junction fragment. With these clones we were able to identify and characterize eight deletions in 69 choroideremia patients investigated. The deletions are heterogeneous, in both size and location. The smallest...

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Identifiers

PMID: 2220804
PMCID: PMC1683797

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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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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.PMID 2220804Read ↗

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