Choroideremia associated with an X-autosomal translocation

A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13 – 46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the...

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Detalles Bibliográficos
Autores principales: Siu, Victoria M., Gonder, John R., Jung, Jack H., Sergovich, Frederick R., Flintoff, Wayne F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 1990
Materias:
Original Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087745/
https://www.ncbi.nlm.nih.gov/pubmed/2323779
http://dx.doi.org/10.1007/BF00195820

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087745/
https://www.ncbi.nlm.nih.gov/pubmed/2323779
http://dx.doi.org/10.1007/BF00195820

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