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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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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: 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
Sprog:Inglês
Udgivet: National Academy of Sciences 1989
Fag:
Research Article
Online adgang: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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