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Table 2 X-chromosome inactivation (XCI) in 20 mothers of infants with sporadic XLA in relation to BTK gene analysis

From: X-Chromosome Inactivation and Mutation Pattern in the Bruton’s Tyrosine Kinase Gene in Patients with X-linked Agammaglobulinemia

Pattern of XCI

No BTK Mutations (2/20 = 10%)

Presence of BTK Mutations (18/20 = 90%)

Non-random

n°10

1

9

Random

n°6

1

5

Skewed

n°1

-

1

Non-informative

n°3

-

3