Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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3. MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease;Molecular Genetics and Metabolism;2016-12
4. Functional analysis of 11 novel GBA alleles;European Journal of Human Genetics;2013-09-11
5. Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population;Clinical Genetics;2011-12-28
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