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Title: Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)
Authors: Matthijs, Gert ×
Legius, Eric
Schollen, E
Vandenberk, P
Jaeken, Jacques
Barone, R
Fiumara, A
Visser, G
Lambert, M
Cassiman, Jean-Jacques #
Issue Date: Dec-1996
Series Title: Genomics. vol:35 issue:3 pages:597-9
Abstract: We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein syndrome type I (CDG1). First, linkage to the region between D16S406 and D16S500 is confirmed. The telomeric border of the candidate region is now definitively placed proximal to D16S406 by crossovers observed in 2 families. Second, in 1 family with 2 affected siblings, the disease is not linked to chromosome 16p. Genetic heterogeneity has not been previously reported for CDG1, and this observation has implications for prenatal diagnosis. Third, allelic associations suggest that the disease locus is localized close to D16S414/D16S497. This places the region of interest centromeric of its published localization.
ISSN: 0888-7543
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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