Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli
β Scribed by Kjaergaard, Susanne; Skovby, Flemming; Schwartz, Marianne
- Book ID
- 110024896
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 211 KB
- Volume
- 7
- 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
Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in