Deciphering the function(s) of SLC10A7 in Congenital Disorders of Glycosylation (CDG). KU Leuven
Congenital Disorders of Glycosylation (CDG) are a rapidly growing and heterogeneous group of rare metabolic diseases caused by inborn defects in glycosylation. Thanks to the use of Whole Exome Sequencing (WES), SLC10A7 has been identified as a candidate gene in CDG patients with a specific clinical phenotype of skeletal dysplasia. The function of SLC10A7 is absolutely not deciphered yet. This PhD project proposes to apply our combined ...