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

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 6...

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Detalhes bibliográficos
Main Authors: Cremers, Frans P. M., Sankila, Eeva-Marja, Brunsmann, Frank, Jay, Marcelle, Jay, Barrie, Wright, Alan, Pinckers, Alfred J. L. G., Schwartz, Marianne, van de Pol, Dorien J. R., Wieringa, Bé, de la Chapelle, Albert, Pawlowitzki, Ivar H., Ropers, Hans-Hilger
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683797/
https://ncbi.nlm.nih.gov/pubmed/2220804
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