Carregant...

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy

Background: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder characterised by tiny yellowish glittering retinal crystals, choroidal sclerosis, and crystals in the peripheral cornea, associated with progressive night blindness. CYP4V2, encoding a member...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Lin, J, Nishiguchi, K, Nakamura, M, Dryja, T, Berson, E, Miyake, Y
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2005
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736086/
https://ncbi.nlm.nih.gov/pubmed/15937078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029066
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!