Mutations in SOX9, the Gene Responsible for Campomelic Dysplasia and Autosomal Sex Reversal

Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man. We have screened seven CD p...

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Hauptverfasser: Kwok, Cheni, Weller, Polly A., Guioli, Silvana, Foster, Jamie W., Mansour, Sahar, Zuffardi, Orsetta, Punnett, Hope H., Dominguez-Steglich, Marina A., Brook, J. David, Young, Ian D., Goodfellow, Peter N., Schafer, Alan J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1995
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801368/
https://ncbi.nlm.nih.gov/pubmed/7485151
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