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.

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Description scientific article
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author: Dorota Jurkiewicz  Elżbieta Ciara  Ewa Pronicka  Ewa Popowska 

Publication date July 1, 2003
Language English
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