ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins which transport a variety of substrates across membranes. The ABCA4 protein is expressed in photoreceptors and possibly functions as a transporter for N-retinylidene-phosphatidylethanolamine (N-retinylidene-PE...

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Autori principali: Kitiratschky, Veronique B.D., Grau, Tanja, Bernd, Antje, Zrenner, Eberhart, Jägle, Herbert, Renner, Agnes B., Kellner, Ulrich, Rudolph, Günther, Jacobson, Samuel G., Cideciyan, Artur V., Schaich, Simone, Kohl, Susanne, Wissinger, Bernd
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2579899/
https://ncbi.nlm.nih.gov/pubmed/18285826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.23
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