Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

Campomelic dysplasia (CD) is a rare, neonatal human chondrodysplasia characterized by bowing of the long bones and often associated with male-to-female sex-reversal. Patients present with either heterozygous mutations in the SOX9 gene or chromosome rearrangements mapping at least 50 kb upstream of S...

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Detaylı Bibliyografya
Asıl Yazarlar: Wunderle, Véronique M., Critcher, Ricky, Hastie, Nicholas, Goodfellow, Peter N., Schedl, Andreas
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The National Academy of Sciences 1998
Konular:
Biological Sciences
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC27949/
https://ncbi.nlm.nih.gov/pubmed/9724758
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