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Defective MPI causes MPI-CDG (CDG-1b)

Defective MPI causes MPI-CDG (CDG-1b)

http://www.wikidata.org/entity/Q45316568

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Defective MPI does not isomerize Fru6P to Man6P

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Diseases associated with glycosylation precursor biosynthesis

P527

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P361

Q45316558-58A0D594-10F7-466B-B744-DCE7D9B8D2AA

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Defective MPI causes MPI-CDG (CDG-1b)

http://www.wikidata.org/entity/Q45316568

description

An instance of the biological ...... I-CDG (CDG-1b) in Homo sapiens

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name

Defective MPI causes MPI-CDG (CDG-1b)

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type

label

Defective MPI causes MPI-CDG (CDG-1b)

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prefLabel

Defective MPI causes MPI-CDG (CDG-1b)

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P2860

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P527

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P703

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P2860

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.

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reactome:R-HSA-4043916

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biological pathway

P361

Diseases associated with glycosylation precursor biosynthesis

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R-HSA-4043916

http://www.w3.org/2001/XMLSchema#string

P527

Defective MPI does not isomerize Fru6P to Man6P

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