Article
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Molecular genetics and metabolism - 1 Jul 2003
Hellerud Christina, Adamowicz Maciej, Jurkiewicz Dorota, Taybert Joanna, Kubalska Jolanta, Ciara Elzbieta, Popowska Ewa, Ellis James R, Lindstedt Sven, Pronicka Ewa
Abstract excerpt
Five cases of glycerol kinase deficiency are presented with clinical, biochemical, and genetic results. Two had the glycerol kinase deficiency as part of an Xp21 contiguous gene deletion syndrome-complex form-and three had an isolated form of the enzyme deficiency. In these we found two splice site mutations (IVS1+4A>G, IVS9-1G>T) and one insertion (1393_1394insG). In patients with the complex form, a deletion of...
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