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Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

✍ Scribed by Catherine Brunel-Guitton; Brett Casey; Marion Coulter-Mackie; Hilary Vallance; Deborah Hewes; Sylvia Stockler-Ipsiroglu; Saadet Mercimek-Mahmutoglu


Book ID
116989300
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
267 KB
Volume
103
Category
Article
ISSN
1096-7192

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A novel homozygous missense mutation in
✍ Catherine B. Grundy; Morag Chisholm; Vijay V. Kakkar; David N. Cooper πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 199 KB

A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the conditi