Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. Here we describe five families affected by an adult-onset retinal dystrophy with early macular involvement and associated central visual loss in the third or fourth d...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: El-Asrag, Mohammed E., Sergouniotis, Panagiotis I., McKibbin, Martin, Plagnol, Vincent, Sheridan, Eamonn, Waseem, Naushin, Abdelhamed, Zakia, McKeefry, Declan, Van Schil, Kristof, Poulter, James A., Johnson, Colin A., Carr, Ian M., Leroy, Bart P., De Baere, Elfride, Inglehearn, Chris F., Webster, Andrew R., Toomes, Carmel, Ali, Manir
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2015
Onderwerpen:
Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457961/
https://ncbi.nlm.nih.gov/pubmed/25983245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.006
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items