Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

A balanced de novo translocation t(X;1) is described in a girl with severe haemophilia B. The translocated X was shown cytologically to be preferentially active, and methylation analysis of the DXS255 locus confirmed the skewed X‐inactivation with the paternal allele being the active one. Cytogeneti...

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