Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 g...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L., Jacques, Thomas S., Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J., Kohlhase, Jürgen, Nischal, Ken K., Sowden, Jane C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2014
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3990155/
https://ncbi.nlm.nih.gov/pubmed/24412933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt643
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