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Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

Choroideremia, an X-chromosome linked retinal dystrophy of unknown pathogenesis, causes progressive nightblindness and eventual central blindness in affected males by the third to fourth decade of life. Choroideremia has been mapped to Xq13-21 by tight linkage to restriction fragment length polymorp...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Nussbaum, R L, Lesko, J G, Lewis, R A, Ledbetter, S A, Ledbetter, D H
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC299109/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3476958/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.84.18.6521
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