Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Choroideremia (tapeto-choroidal dystrophy, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central blindness in affected males by the third to fourth decade of life. Recently, we have been able to map the TCD gene to a small region of overlap betwee...

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Dades bibliogràfiques
Publicat a:Proc Natl Acad Sci U S A
Autors principals: Cremers, F P, van de Pol, D J, Wieringa, B, Collins, F S, Sankila, E M, Siu, V M, Flintoff, W F, Brunsmann, F, Blonden, L A, Ropers, H H
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 1989
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298094/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2798422/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.19.7510
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