ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoco...

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Autori principali: Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Academic Press 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925994/
https://ncbi.nlm.nih.gov/pubmed/23680354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.04.014
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