A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9 - Concepedia

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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

DOI Full Paper Access

39

Citations

18

References

2015

Year

Emma Tham, Erik A. Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt‐Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner,

European Journal of Human Genetics

GlycoproteomicsNovel PhenotypeMendelian DisorderGenetic DisorderNatural SciencesGeneticsN-glycosylation DisordersGlycobiologyMolecular BiologyPathologyMolecular GeneticsDisease Gene IdentificationMedicinePathogenic VariantsLysosomal Storage DiseaseGlycosylation

References

	Year	Citations

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