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Table 2 The recurrent ALPL gene mutations found in the 53 patients affected with mild HPP and carrying two mutated alleles.

From: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Mutation

Activity (% WT)

Frequency

c.571G>A (p.E191K)/other

56–88a

0.547

c.526G>A (p.A176T)/other

30.2–45.4a

0.094

c.407G>A (p.R136H)/other

33.4

0.075

c.1363G>A (p.G455S)/other

71.0

0.038

c.815G>A (p.R272H)/other

6.8

0.038

c.395C>T (p.A132V)/other

16.9

0.019

other/other

 

0.189

Total

 

1.000

  1. a According to this study and according to Zurutuza et al. [19]
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BMC Medical Genetics

ISSN: 1471-2350

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