Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

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

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 365 citations

Life Sciences, Genetics, Molecular Genetics +11

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A

Gert Matthijs, Els Schollen, Emile Van Schaftingen et al. · The American Journal of Human Genetics · 1998 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

Susanne Kjærgaard, Flemming Skovby, Marianne Schwartz · European Journal of Human Genetics · 1998 · 65 citations

Life Sciences, Genetics, Molecular Genetics +8

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

Tommy Martinsson, Cecilia Bjursell, Helena Stibler et al. · PubMed · 1994 · 63 citations

Life Sciences, Genetics, Molecular Genetics +17

Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families

Cecilia Bjursell, Helena Stibler, Jan Wahlström et al. · Genomics · 1997 · 51 citations

Life Sciences, Genetics, Molecular Genetics +10