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Article

Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.

Genetic testing - 1 Jan 2000

Erlandson A, Stibler H, Kristiansson B, Wahlström J, Martinsson T

Abstract excerpt

The phosphomannomutase 2 gene (PMM2; MIM 601785) has been identified as the carbohydrate-deficient glycoprotein syndrome type 1A gene (CDGS type 1A; MIM 212065). The gene spans 8 exons and 741 bp of coding DNA. Previously, we have identified 20 different mutations in the PMM2 gene using mutation screening with single-stranded conformation polymorphism (SSCP) and sequencing of DNA from 61 CDGS type 1A patients....

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Share to Chromatography, High Pressure Liquid
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11142762
DOI: 10.1089/10906570050501533

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.PMID 11142762Read ↗

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.Semantic proximity Read ↗

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

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.Semantic proximity Read ↗

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.Semantic proximity Read ↗

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.Semantic proximity Read ↗

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Semantic proximity Read ↗

A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases DeletionSemantic proximity Read ↗

A new insight into PMM2 mutations in the French population.Semantic proximity Read ↗

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.Semantic proximity Read ↗

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.Semantic proximity Read ↗

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.Semantic proximity Read ↗

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)Semantic proximity Read ↗

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