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Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

The study of contiguous gene deletion syndromes by using reverse genetic techniques provides a powerful tool for precisely defining the map location of the genes involved. We have made use of individuals with overlapping deletions producing choroideremia as part of a complex phenotype, to define the...

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Detalhes bibliográficos
Main Authors: Merry, D E, Lesko, J G, Sosnoski, D M, Lewis, R A, Lubinsky, M, Trask, B, van den Engh, G, Collins, F S, Nussbaum, R L
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683514/
https://ncbi.nlm.nih.gov/pubmed/2491012
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