Clinical utility gene card for: Hypophosphatasia – update 2013

Abstract

1.5 Mutational spectrum Over 250 different disease-causing mutations have been reported in the ALPL gene mutations. Database http://www.sesep.uvsq.fr/03_hypo_mutations.php. The distribution is as follows: 75.5% missense mutations; 10.5% small deletions; 6% splicing mutations; 4% nonsense mutations; 2% small insertions; and 1% or less: complex insertion… (More)
DOI: 10.1038/ejhg.2013.177

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