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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 1989
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC298094/
https://ncbi.nlm.nih.gov/pubmed/2798422
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