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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
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Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014479/
https://www.ncbi.nlm.nih.gov/pubmed/29490426
http://dx.doi.org/10.1002/mgg3.378

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