Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference23 articles.
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2. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins;Jaeken;J Inherit Metab Dis,1997
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4. Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics;Jaeken;Eur J Paediatr Neurol,1997
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