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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1989
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC298094/
https://ncbi.nlm.nih.gov/pubmed/2798422
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak