Folia Biologica
Journal of Cellular and Molecular Biology, Charles University 

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Fol. Biol. 2007, 53, 194-201

https://doi.org/10.14712/fb2007053060194

A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family

E. Flachsová1, I. C. Verma2, D. Ulbrichová1, R. Saxena2, J. Zeman1, V. Saudek3, C. S. Raman4, Pavel Martásek1

1Department of Pediatrics and Center for Integrated Genomics, Charles University in Prague, 1st Faculty of Medicine, Prague, Czech Republic
2Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
3Laboratory of Molecular Pathology, Institute of Inherited Metabolic Disorders, Charles University in Prague, 1st Faculty of Medicine, Prague, Czech Republic
4Department of Biochemistry, University of Texas, Health Science Center Medical School, Houston, USA

Received September 2007
Accepted September 2007

References

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