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 Cited by

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

Crossref Cited-by Linking

Ulbrichova-Douderova Dana, Martasek Pavel: Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis. Analytical Biochemistry 2009, 395, 41. <https://doi.org/10.1016/j.ab.2009.07.050>
Ulbrichova Dana, Schneider-Yin Xiaoye, Mamet Rivka, Saudek Vladimir, Martasek Pavel, Minder Elisabeth I., Schoenfeld Nili: Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. Blood Cells, Molecules, and Diseases 2009, 42, 167. <https://doi.org/10.1016/j.bcmd.2008.11.001>
Schneider-Yin Xiaoye, Ulbrichova Dana, Mamet Rivka, Martasek Pavel, Marohnic Christopher C., Goren Avner, Minder Elisabeth I., Schoenfeld Nili: Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. Molecular Genetics and Metabolism 2008, 94, 343. <https://doi.org/10.1016/j.ymgme.2008.03.001>