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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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Détails bibliographiques
Auteurs principaux: Nussbaum, R L, Lesko, J G, Lewis, R A, Ledbetter, S A, Ledbetter, D H
Format: Artigo
Langue:Inglês
Publié: 1987
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC299109/
https://ncbi.nlm.nih.gov/pubmed/3476958
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