175 related articles for article (PubMed ID: 16542395)
1. Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.
Schneider-Yin X; Szlendak U; Lipniacka AI; Minder EI; Gregor A
Clin Genet; 2006 Mar; 69(3):284-6. PubMed ID: 16542395
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Solis CS; Lopez-Echaniz I; Sefarty-Graneda D; Astrin KH; Desnick RJ
Hum Genet; 2004 Mar; 114(4):402. PubMed ID: 15046057
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. [The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].
Pivnik AV; Pustovoĭt IaS; Karpova IV; Surin VL; Luk'ianenko AV
Ter Arkh; 2000; 72(7):5-8. PubMed ID: 10983313
[No Abstract] [Full Text] [Related]
9. Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Di Pierro E; Brancaleoni V; Stanzial F; Benedicenti F; Castellan C; Cappellini MD
Hum Genet; 2009 Aug; 126(2):339. PubMed ID: 19694018
[No Abstract] [Full Text] [Related]
10. 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]
11. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Besana V; Di Pierro E; Brancaleoni V; Sabrina A; Fiocchi M; Cappellini MD
Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320020
[No Abstract] [Full Text] [Related]
12. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro E; Besana V; Brancaleoni V; Ausenda S; Lonati P; Cappellini MD
Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350657
[No Abstract] [Full Text] [Related]
13. Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations.
von Brasch L; Zang C; Haverkamp T; Schlechte H; Heckers H; Petrides PE
Blood Cells Mol Dis; 2004; 32(2):309-14. PubMed ID: 15003823
[TBL] [Abstract][Full Text] [Related]
14. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro E; Besana V; Brancaleoni V; Fasulo MR; Cesaretti C; Cappellini MD
Hum Genet; 2009 Apr; 125(3):347. PubMed ID: 19320027
[No Abstract] [Full Text] [Related]
15. 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]
16. 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]
17. Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12.
Ong PM; Lanyon WG; Moore MR; Connor JM
Mol Cell Probes; 1998 Apr; 12(2):63-70. PubMed ID: 9633040
[TBL] [Abstract][Full Text] [Related]
18. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
De Siervi A; Weiss Cádiz DE; Parera VE; del C Batlle AM; Rossetti MV
Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452
[TBL] [Abstract][Full Text] [Related]
19. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
Yrjönen A; Pischik E; Mehtälä S; Kauppinen R
Clin Genet; 2008 Oct; 74(4):396-8. PubMed ID: 18647325
[No Abstract] [Full Text] [Related]
20. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
Tomie Y; Horie Y; Tajima F; Kitaoka S; Nanba E; Yuasa I; Kawasaki H
Res Commun Mol Pathol Pharmacol; 1998 Jan; 99(1):5-15. PubMed ID: 9523350
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
