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Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

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author: Nicola Chiarelli  Marco Ritelli  Piergiacomo Calzavara-Pinton 

Publication date November 20, 2014
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