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
| Autor: | Hellerud, Christina, Adamowicz, Maciej, Jurkiewicz, Dorota, Taybert, Joanna, Kubalska, Jolanta, Ciara, Elżbieta, Popowska, Ewa, Ellis, James R, Lindstedt, Sven, Pronicka, Ewa |
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| Zdroj: | In Molecular Genetics and Metabolism 2003 79(3):149-159 |
| Databáze: | ScienceDirect |
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