207 related articles for article (PubMed ID: 20978940)
1. Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
Paradisi I; Arias S
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S455-63. PubMed ID: 20978940
[TBL] [Abstract][Full Text] [Related]
2. Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
de Rooij FW; Kavelaars FG; Koole-Lesuis H; Wilson JH
Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):64-9. PubMed ID: 19656453
[TBL] [Abstract][Full Text] [Related]
3. Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Tjensvoll K; Bruland O; Floderus Y; Skadberg Ø; Sandberg S; Apold J
Dis Markers; 2003-2004; 19(1):41-6. PubMed ID: 14757946
[TBL] [Abstract][Full Text] [Related]
4. Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Schuurmans MM; Schneider-Yin X; Rüfenacht UB; Schnyder C; Minder CE; Puy H; Deybach JC; Minder EI
Mol Med; 2001 Aug; 7(8):535-42. PubMed ID: 11591889
[TBL] [Abstract][Full Text] [Related]
5. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Guillén-Navarro E; Carbonell P; Glover G; Sánchez-Solís M; Fernández-Barreiro A
Ann Hum Genet; 2004 Sep; 68(Pt 5):509-14. PubMed ID: 15469427
[TBL] [Abstract][Full Text] [Related]
6. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A; Rossetti MV; Parera VE; Astrin KH; Aizencang GI; Glass IA; Batlle AM; Desnick RJ
Am J Med Genet; 1999 Oct; 86(4):366-75. PubMed ID: 10494093
[TBL] [Abstract][Full Text] [Related]
7. Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
Gonzaga AD; de Amorim LM; Fonseca AB; Nogueira TL; Pereira OM; Nagai MA; de Oliveira Barretto OC; Ribeiro GS
Ann Hum Genet; 2015 May; 79(3):162-72. PubMed ID: 25703257
[TBL] [Abstract][Full Text] [Related]
8. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
Szlendak U; Lipniacka A; Bianketti J; Podolak-Dawidziak M; Bykowska K
Adv Clin Exp Med; 2015; 24(1):63-8. PubMed ID: 25923088
[TBL] [Abstract][Full Text] [Related]
9. Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Schneider-Yin X; Hergersberg M; Goldgar DE; Rüfenacht UB; Schuurmans MM; Puy H; Deybach JC; Minder EI
Hum Hered; 2002; 54(2):69-81. PubMed ID: 12566739
[TBL] [Abstract][Full Text] [Related]
10. Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.
Martinez di Montemuros F; Di Pierro E; Biolcati G; Rocchi E; Bissolotti E; Tavazzi D; Fiorelli G; Cappellini MD
Blood Cells Mol Dis; 2001; 27(6):961-70. PubMed ID: 11831862
[TBL] [Abstract][Full Text] [Related]
11. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N
Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865
[TBL] [Abstract][Full Text] [Related]
12. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D; Hrdinka M; Saudek V; Martasek P
FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
[TBL] [Abstract][Full Text] [Related]
13. Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.
To-Figueras J; Badenas C; Carrera C; Muñoz C; Milá M; Lecha M; Herrero C
J Inherit Metab Dis; 2006 Aug; 29(4):580-5. PubMed ID: 16817012
[TBL] [Abstract][Full Text] [Related]
14. A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.
Maeda N; Horie Y; Sasaki Y; Ueta E; Adachi K; Nanba E; Kawasaki H; Kudo Y; Kondo M
Clin Biochem; 1999 Aug; 32(6):411-7. PubMed ID: 10667475
[TBL] [Abstract][Full Text] [Related]
15. Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Robreau-Fraolini AM; Puy H; Aquaron C; Bogard C; Traore M; Nordmann Y; Aquaron R; Deybach JC
Hum Genet; 2000 Aug; 107(2):150-9. PubMed ID: 11030413
[TBL] [Abstract][Full Text] [Related]
16. Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Schneider-Yin X; Hergersberg M; Schuurmans MM; Gregor A; Minder EI
J Inherit Metab Dis; 2004; 27(5):625-31. PubMed ID: 15669678
[TBL] [Abstract][Full Text] [Related]
17. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI
Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754
[TBL] [Abstract][Full Text] [Related]
18. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez M; Buendía-Martínez J; Glover-López G; Carazo-Díaz C; Ballesta-Martínez MJ; López-González V; Sánchez-Soler MJ; Rodriguez-Peña L; Serrano-Antón AT; Gil-Ferrer R; Martínez-Romero MDC; Carbonell-Meseguer P; Guillén-Navarro E
Orphanet J Rare Dis; 2019 Feb; 14(1):59. PubMed ID: 30808393
[TBL] [Abstract][Full Text] [Related]
19. Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.
Ong PM; Lanyon WG; Graham G; Hift RJ; Halkett J; Moore MR; Connor JM
Mol Cell Probes; 1997 Aug; 11(4):293-6. PubMed ID: 9281416
[TBL] [Abstract][Full Text] [Related]
20. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Clavero S; Bishop DF; Haskins ME; Giger U; Kauppinen R; Desnick RJ
Hum Mol Genet; 2010 Feb; 19(4):584-96. PubMed ID: 19934113
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]