Rare Disease Report

How to determine which mutations are pathogenic in Morquio A?

OCTOBER 11, 2015
James Radke, PhD

More than  277 mutations have been reported in the GALNS gene. It is not certain which of those mutations leads to the Morquio syndrome type A.

Timothy Wood, PhD, of Greenwood Genetic Center discusses how they determine if a GALNS gene mutation in a Morquio A patient is likely pathogenic.

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