Title : PMM2-CDG

Pub. Date : 1993

PMID : 20301289






2 Functional Relationships(s)
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1 PMM2-CDG (CDG-Ia) CLINICAL CHARACTERISTICS: PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. n-linked oligosaccharides phosphomannomutase 2 Homo sapiens
2 PMM2-CDG (CDG-Ia) CLINICAL CHARACTERISTICS: PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. n-linked oligosaccharides phosphomannomutase 2 Homo sapiens