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Results of search for 'su:"Hydroxymethylbilane Synthase"', page 12 of 44
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Authors
Batlle, A
Batlle, A M
Battersby, A R
Cappellini, M D
Desnick, Robert J
Deybach, J C
Goldberg, A
Grandchamp, B
Jordan, P M
Kappas, A
Moore, M R
Mustajoki, P
Nordmann, Y
Puy, H
Sassa, S
Schoenfeld, N
Shoolingin-Jordan, P M
Thunell, S
Warren, M J
Wilson, J H
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Topics
Adult
Ammonia-Lyases
Animals
Erythrocytes
Female
Heme
Humans
Hydroxymethylbilane Synthase
Male
Mutation
Porphobilinogen Synthase
Porphyria, Acute Intermittent
Porphyrias
analysis
biosynthesis
blood
enzymology
genetics
metabolism
pharmacology
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221.
Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria.
[electronic resource]
by
Law, W K
Choy, K W
Lam, C W
Producer:
19990223
In:
Clinical chemistry
vol. 45
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222.
Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC.
[electronic resource]
by
Lam, C W
Poon, P M
Tong, S F
Lo, A W
Lai, C K
Choi, K L
Tiu, S C
Chan, Y W
Shek, C C
Producer:
20010322
In:
Clinical chemistry
vol. 47
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223.
Soluble proteome investigation of cobalt effect on the carotenoidless mutant of Rhodobacter sphaeroides.
[electronic resource]
by
Pisani, F
Italiano, F
de Leo, F
Gallerani, R
Rinalducci, S
Zolla, L
Agostiano, A
Ceci, L R
Trotta, M
Producer:
20100222
In:
Journal of applied microbiology
vol. 106
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224.
Heme Binding to Porphobilinogen Deaminase from Vibrio cholerae Decelerates the Formation of 1-Hydroxymethylbilane.
[electronic resource]
by
Uchida, Takeshi
Funamizu, Takumi
Chen, Minghao
Tanaka, Yoshikazu
Ishimori, Koichiro
Producer:
20190405
In:
ACS chemical biology
vol. 13
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225.
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.
[electronic resource]
by
Bung, Navneet
Roy, Arijit
Chen, Brenden
Das, Dibyajyoti
Pradhan, Meenakshi
Yasuda, Makiko
New, Maria I
Desnick, Robert J
Bulusu, Gopalakrishnan
Producer:
20180814
In:
Proceedings of the National Academy of Sciences of the United States of America
vol. 115
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226.
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
[electronic resource]
by
Mgone, C S
Lanyon, W G
Moore, M R
Connor, J M
Producer:
19921201
In:
Human genetics
vol. 90
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227.
Site-directed mutagenesis and high-resolution NMR spectroscopy of the active site of porphobilinogen deaminase.
[electronic resource]
by
Scott, A I
Roessner, C A
Stolowich, N J
Karuso, P
Williams, H J
Grant, S K
Gonzalez, M D
Hoshino, T
Producer:
19890502
In:
Biochemistry
vol. 27
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228.
Some parameters of haem synthesis in dialysed and non-dialysed uraemic patients.
[electronic resource]
by
Yalouris, A G
Lyberatos, C
Chalevelakis, G
Theodosiadou, E
Billis, A
Raptis, S
Producer:
19870302
In:
Scandinavian journal of haematology
vol. 37
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229.
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
[electronic resource]
by
Lamon, J M
Frykholm, B C
Tschudy, D P
Producer:
19790917
In:
Journal of medical genetics
vol. 16
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230.
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.
[electronic resource]
by
Chen, C H
Astrin, K H
Lee, G
Anderson, K E
Desnick, R J
Producer:
19941202
In:
The Journal of clinical investigation
vol. 94
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231.
A linkage study of schizophrenia with DNA markers from the long arm of chromosome 11.
[electronic resource]
by
Gill, M
McGuffin, P
Parfitt, E
Mant, R
Asherson, P
Collier, D
Vallada, H
Powell, J
Shaikh, S
Taylor, C
Producer:
19930518
In:
Psychological medicine
vol. 23
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232.
Validation of putative reference genes for gene expression studies in human hepatocellular carcinoma using real-time quantitative RT-PCR.
[electronic resource]
by
Cicinnati, Vito R
Shen, Qingli
Sotiropoulos, Georgios C
Radtke, Arnold
Gerken, Guido
Beckebaum, Susanne
Producer:
20090220
In:
BMC cancer
vol. 8
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233.
Purple pigments: the pathophysiology of acute porphyric neuropathy.
[electronic resource]
by
Lin, Cindy S-Y
Lee, Ming-Jen
Park, Susanna B
Kiernan, Matthew C
Producer:
20120104
In:
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
vol. 122
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234.
Porphobilinogen and porphyrin synthesis in reticulocytes from uraemic patients.
[electronic resource]
by
Leber, H W
Sinning, P
Schütterle, G
Producer:
19760219
In:
Proceedings of the European Dialysis and Transplant Association. European Dialysis and Transplant Association
vol. 11
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235.
[Acute intermittent porphyria simulating encephalitis].
[electronic resource]
by
Makara, M
Süveges, M
Producer:
19890815
In:
Orvosi hetilap
vol. 130
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236.
[Evaluation of the diagnostic usefulness of determining porphobilinogen deaminase activity in the erythrocytes in patients with acute intermittent porphyria and in carriers of the gene of this type of porphyria].
[electronic resource]
by
Gregor, A
Kocyłowski, M
Kostrzewska, E
Producer:
19870529
In:
Przeglad lekarski
vol. 43
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237.
Detection of a T/C polymorphism in the porphobilinogen deaminase gene by polymerase chain reaction amplification of specific alleles.
[electronic resource]
by
Schreiber, W E
Jamani, A
Ritchie, B
Producer:
19921116
In:
Clinical chemistry
vol. 38
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238.
An improved PCR-based method for site directed mutagenesis using megaprimers.
[electronic resource]
by
Brøns-Poulsen, J
Petersen, N E
Hørder, M
Kristiansen, K
Producer:
19990115
In:
Molecular and cellular probes
vol. 12
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239.
Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat.
[electronic resource]
by
Grandchamp, B
Romeo, P H
Dubart, A
Raich, N
Rosa, J
Nordmann, Y
Goossens, M
Producer:
19841003
In:
Proceedings of the National Academy of Sciences of the United States of America
vol. 81
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240.
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
[electronic resource]
by
Brownlie, P D
Lambert, R
Louie, G V
Jordan, P M
Blundell, T L
Warren, M J
Cooper, J B
Wood, S P
Producer:
19950313
In:
Protein science : a publication of the Protein Society
vol. 3
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