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Genetic and Epidemiological Aspects of the Carbohydrate‐deficient Glycoprotein Syndrome
Author(s) -
EEGOLOFSSON KARIN EDEBOL,
WAHLSTROM JAN
Publication year - 1991
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1991.tb12030.x
Subject(s) - medicine , glycoprotein , disease , gene , genetics , genetic linkage , epidemiology , biology
A new systemic disease with abnormal metabolism of the carbohydrate moieties of glycoproteins has recently been described (CDG syndrome). Available data suggest that the disease is inherited via an autosomal recessive gene. In the future, chromosome analysis and saving of DNA from all patients with the disease are recommended to facilitate linkage analysis.