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...

ver descrição completa

Detalhes bibliográficos

Publicado no:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1989
Assuntos:	Research Article
Acesso em linha:	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
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!