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9 in total

1. Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

Authors: Irene Paradisi; Sergio Arias
Journal: J Inherit Metab Dis Date: 2010-10-27 Impact factor: 4.982

2. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Authors: H Puy; J C Deybach; J Lamoril; A M Robreau; V Da Silva; L Gouya; B Grandchamp; Y Nordmann
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

3. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.

Authors: W E Schreiber; F Fong; B A Nassar; A Jamani
Journal: Hum Genet Date: 1995-08 Impact factor: 4.132

Review 4. Molecular genetics of disorders of haem biosynthesis.

Authors: G H Elder
Journal: J Clin Pathol Date: 1993-11 Impact factor: 3.411

5. Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.

Authors: Novruz B Ahmedli; Yekaterina Gribanova; Collins C Njoku; Akash Naidu; Alejandra Young; Emmanuel Mendoza; Clyde K Yamashita; Riza Köksal Ozgül; Jerry E Johnson; Donald A Fox; Debora B Farber
Journal: J Biol Chem Date: 2013-02-05 Impact factor: 5.157

6. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Authors: C H Chen; K H Astrin; G Lee; K E Anderson; R J Desnick
Journal: J Clin Invest Date: 1994-11 Impact factor: 14.808

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.

1. Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

2. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

3. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.

Review 4. Molecular genetics of disorders of haem biosynthesis.

5. Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.

6. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Review 7. Porphobilinogen deaminase gene structure and molecular defects.

8. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).

9. Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.