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

✍ Scribed by Kjaergaard, Susanne; Skovby, Flemming; Schwartz, Marianne


Book ID
110024703
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
287 KB
Volume
6
Category
Article
ISSN
1018-4813

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Carbohydrate-deficient glycoprotein syndrome type Ia (CDGS) is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene. A tota