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Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect, craniorachischisis

Craniorachischisis is a severe neural tube defect (NTD) resulting from failure to initiate closure, leaving the hindbrain and spinal neural tube entirely open. Clues to the genetic basis of this condition come from several mouse models, which harbour mutations in core members of the planar cell pola...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Robinson, Alexis, Escuin, Sarah, Doudney, Kit, Vekemans, Michel, Stevenson, Roger E, Greene, Nicholas DE, Copp, Andrew J, Stanier, Philip
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772123/
https://ncbi.nlm.nih.gov/pubmed/22095531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21662
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