Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio SNP microarray analysis

BACKGROUND: We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X‐inactivation was observed in both the proband and her clinically normal mother. METHODS: Bidirectional Sanger sequencing of all F8 gene coding regions and exon/in...

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Publicado no:Mol Genet Genomic Med
Main Authors: Mason, Jane A., Aung, Hnin T., Nandini, Adayapalam, Woods, Rickie G., Fairbairn, David J., Rowell, John A., Young, David, Susman, Rachel D., Brown, Simon A., Hyland, Valentine J., Robertson, Jeremy D.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6014479/
https://ncbi.nlm.nih.gov/pubmed/29490426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.378
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