Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Cone-rod dystrophy (CRD) is an inherited progressive retinal dystrophy affecting the function of cone and rod photoreceptors. By autozygosity mapping, we identified null mutations in the ADAM metallopeptidase domain 9 (ADAM9) gene in four consanguineous families with recessively inherited early-onse...

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Bibliografiske detaljer
Main Authors: Parry, David A., Toomes, Carmel, Bida, Lina, Danciger, Michael, Towns, Katherine V., McKibbin, Martin, Jacobson, Samuel G., Logan, Clare V., Ali, Manir, Bond, Jacquelyn, Chance, Rebecca, Swendeman, Steven, Daniele, Lauren L., Springell, Kelly, Adams, Matthew, Johnson, Colin A., Booth, Adam P., Jafri, Hussain, Rashid, Yasmin, Banin, Eyal, Strom, Tim M., Farber, Debora B., Sharon, Dror, Blobel, Carl P., Pugh, Edward N., Pierce, Eric A., Inglehearn, Chris F.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2009
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2681008/
https://ncbi.nlm.nih.gov/pubmed/19409519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.005
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