Prenatal diagnosis in CDG1 families: Beware of heterogeneity

European Journal of Human Genetics

Volumn 6, Issue 2, 1998, Pages 99-104

  Matthijs, Gert ^a,d   Schollen, Els ^a   Cassiman, Jean Jacques ^a   Cormier Daire, Valérie ^b   Jaeken, Jaak ^a   Van Schaftingen, Emile ^c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Amniocytes; Chromosome 16; Jaeken syndrome; Linkage analysis; Mutation analysis; Phosphomannomutase; Recessive disease; Trophoblasts

Indexed keywords

MANNOSE PHOSPHATE; MUTASE;

AMNIOTIC FLUID CELL; ARTICLE; CHROMOSOME 16P; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TROPHOBLAST;

EID: 0031959340     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200161     Document Type: Article

References (17)

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