Query author contributions in Reactome

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Details on Person Matthijs, G

Class:Id	Person:449294
_displayName	Matthijs, G
_timestamp	2009-12-02 11:34:31
created	[InstanceEdit:449318] Jassal, B, 2009-12-02
initial	G
surname	Matthijs
(author)	[LiteratureReference:449224] Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik [LiteratureReference:449280] CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features [LiteratureReference:449635] Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) [LiteratureReference:452088] Screening for OST deficiencies in unsolved CDG-I patients [LiteratureReference:532524] PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13 [LiteratureReference:532526] Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) [LiteratureReference:532543] Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
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No pathways have been reviewed or authored by Matthijs, G (449294)