Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of si...

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Detalhes bibliográficos
Main Authors: Field, Michael, Scheffer, Ingrid E, Gill, Deepak, Wilson, Meredith, Christie, Louise, Shaw, Marie, Gardner, Alison, Glubb, Georgie, Hobson, Lynne, Corbett, Mark, Friend, Kathryn, Willis-Owen, Saffron, Gecz, Jozef
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376274/
https://ncbi.nlm.nih.gov/pubmed/22353940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.9
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