Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

doi:10.1007/s004390100489

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Article

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

Human genetics - 1 May 2001

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

Abstract excerpt

Congenital disorders of glycosylation type Ia, (previous name carbohydrate-deficient glycoprotein syndrome type Ia; CDG-Ia) is an inherited disorder of the glycosylation of certain glycoproteins. The defect is caused by mutations in the phosphomannomutase 2 (PMM2) gene located in chromosome region 16p13. The purpose of this study was twofold: (1) to investigate the possible correlation between certain genotypes...

Topics

Base Sequence
Congenital Disorders of Glycosylation
DNA Mutational Analysis
Female
Founder Effect
Genetic Counseling
Haplotypes
Heterozygote
Humans
Male
Mutation
Pedigree
Phenotype
Phosphotransferases (Phosphomutases)
Polymorphism, Genetic
Scandinavian and Nordic Countries

Source

Open in PubMed

Identifiers

PMID: 11409861
DOI: 10.1007/s004390100489

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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