Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an integral cell-membrane protein that favors RA uptake from soluble retinol-binding protein; its transcript...

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Bibliographische Detailangaben
Hauptverfasser: Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2007
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867105/
https://ncbi.nlm.nih.gov/pubmed/17503335
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