133 related articles for article (PubMed ID: 16828319)
1. A large deletion on chromosome 11 in acute intermittent porphyria.
Di Pierro E; Besana V; Moriondo V; Brancaleoni V; Tavazzi D; Casalgrandi G; Ventura P; Rocchi E; Cappellini MD
Blood Cells Mol Dis; 2006; 37(1):50-4. PubMed ID: 16828319
[TBL] [Abstract][Full Text] [Related]
2. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Martinez di Montemuros F; Di Pierro E; Fargion S; Biolcati G; Griso D; Macrì A; Fiorelli G; Cappellini MD
Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
Gross U; Puy H; Doss M; Robreau AM; Nordmann Y; Doss MO; Deybach JC
Mol Cell Probes; 1999 Dec; 13(6):443-7. PubMed ID: 10657149
[TBL] [Abstract][Full Text] [Related]
6. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Astrin KH; Desnick RJ
Hum Mutat; 1994; 4(4):243-52. PubMed ID: 7866402
[TBL] [Abstract][Full Text] [Related]
7. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Chen B; Solis-Villa C; Erwin AL; Balwani M; Nazarenko I; Phillips JD; Desnick RJ; Yasuda M
J Inherit Metab Dis; 2019 Jan; 42(1):186-194. PubMed ID: 30740734
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
Maeda N; Horie Y; Adachi K; Nanba E; Kawasaki H; Daimon M; Kudo Y; Kondo M
J Hum Genet; 2000; 45(4):263-8. PubMed ID: 10944860
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.
Yang Y; Chen X; Wu H; Peng H; Sun W; He B; Yuan Z
Mol Med Rep; 2020 Jul; 22(1):516-524. PubMed ID: 32377710
[TBL] [Abstract][Full Text] [Related]
14. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
Méndez M; Morán-Jiménez MJ; Gomez-Abecia S; García-Bravo M; Garrido-Astray MC; Fontanellas A; Poblete-Gutiérrez P; Frank J; Enriquez de Salamanca R
Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):55-63. PubMed ID: 19656452
[TBL] [Abstract][Full Text] [Related]
15. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
Li S; Lei JJ; Dong BX; Ren Y; Yang J
Medicine (Baltimore); 2023 Sep; 102(39):e35144. PubMed ID: 37773850
[TBL] [Abstract][Full Text] [Related]
16. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro E; Besana V; Brancaleoni V; Moriondo V; Cappellini MD
Hum Genet; 2006 Apr; 119(3):359. PubMed ID: 17230644
[No Abstract] [Full Text] [Related]
17. 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]
18. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
Zhang Y; Xiao H; Xiong Q; Wu C; Li P
Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681668
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]