A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

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A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

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2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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name

A deletion-insertion mutation ...... disorders of glycosylation-Ia.

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A deletion-insertion mutation ...... disorders of glycosylation-Ia.

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type

Item

label

A deletion-insertion mutation ...... disorders of glycosylation-Ia.

@en

A deletion-insertion mutation ...... disorders of glycosylation-Ia.

@nl

prefLabel

A deletion-insertion mutation ...... disorders of glycosylation-Ia.

@en

A deletion-insertion mutation ...... disorders of glycosylation-Ia.

@nl

P1476

A deletion-insertion mutation ...... disorders of glycosylation-Ia.

@en

P2093

David Q Andrews

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Donna M Krasnewich

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Eduard Orvisky

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Ellen Sidransky

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John McReynolds

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Joseph K Park

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Nahid Tayebi

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P2860

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

P304

241-246

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P31

scholarly article

P356

10.1002/AJMG.10246

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P433

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P478

108

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P577

2002-03-01T00:00:00Z

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P698

11891694

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P921

glycosylation