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

Author:

Hellerud Christina,Adamowicz Maciej,Jurkiewicz Dorota,Taybert Joanna,Kubalska Jolanta,Ciara Elżbieta,Popowska Ewa,Ellis James R,Lindstedt Sven,Pronicka Ewa

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Disorders of glycerol metabolism;McCabe,2001

2. Deficiency of glycerol kinase (EC 2.7.1.30);Eriksson;Clin. Chem.,1983

3. A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor;Ginns;J. Pediatr.,1984

4. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency;Sjarif;J. Med. Genet.,1998

5. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions;Francke;Am. J. Hum. Genet.,1987

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