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Article

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.

European journal of human genetics : EJHG - 1 Jan 2000

Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T

Abstract excerpt

The gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1) has previously been localised by us close to marker D16S406 in chromosome region 16p13.2-3. We also presented data indicating a strong founder mutation associated with a specific haplotype in CDG I patients from western Scand...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 16
Congenital Disorders of Glycosylation
DNA
Female
Genetic Markers
Haplotypes
Humans
Hybrid Cells
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phosphotransferases (Phosphomutases)

Prenatal Diagnosis

Recombination, Genetic

Scandinavian and Nordic Countries

Source

Identifiers

PMID: 9887379
DOI: 10.1038/sj.ejhg.5200234

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9887379-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.PMID 9887379Read ↗

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Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.Semantic proximity Read ↗

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

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