DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation - Concepedia

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DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

DOI Full Paper Access

75

Citations

17

References

2012

Year

Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry,

The American Journal of Human Genetics

Somatic VariantMendelian DisorderGenetic DisorderMedicineGeneticsGlycobiologyMolecular BiologyCongenital DisordersDdost Mutations IdentifiedMolecular GeneticsDisease Gene IdentificationGenomicsMolecular DiagnosticsEpigenetics

References

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