-
1
-
-
0000016355
-
The porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw Hill
-
Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited diseases, vol. 2, 7th edn. New York: McGraw Hill. 1989; pp 2103-59.
-
(1989)
The Metabolic Basis of Inherited Diseases, Vol. 2, 7th Edn.
, vol.2
, pp. 2103-2159
-
-
Kappas, A.1
Sassa, S.2
Galbraith, R.A.3
Nordmann, Y.4
-
2
-
-
0021188334
-
Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat
-
Grandchamp B, Romeo PH, Dubart A et al. Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc. Natl Acad. Sci. USA 1984; 81: 5036-40.
-
(1984)
Proc. Natl Acad. Sci. USA
, vol.81
, pp. 5036-5040
-
-
Grandchamp, B.1
Romeo, P.H.2
Dubart, A.3
-
3
-
-
0023046949
-
Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase
-
Raich N, Romeo PH, Dubart A, Beaupain D, CohenSolal M, Goossens M. Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase. Nucleic Acids Res. 1986; 14: 5955-68.
-
(1986)
Nucleic Acids Res.
, vol.14
, pp. 5955-5968
-
-
Raich, N.1
Romeo, P.H.2
Dubart, A.3
Beaupain, D.4
Cohensolal, M.5
Goossens, M.6
-
4
-
-
0023141499
-
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene
-
Grandchamp B, de Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene. Eur. J. Biochem. 1987; 162: 105-10.
-
(1987)
Eur. J. Biochem.
, vol.162
, pp. 105-110
-
-
Grandchamp, B.1
De Verneuil, H.2
Beaumont, C.3
Chretien, S.4
Walter, O.5
Nordmann, Y.6
-
5
-
-
0027946035
-
The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
-
Brownlie PD, Lambert R, Louie GV et al. The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci. 1994; 3: 1644-50.
-
(1994)
Protein Sci.
, vol.3
, pp. 1644-1650
-
-
Brownlie, P.D.1
Lambert, R.2
Louie, G.V.3
-
6
-
-
0028273724
-
Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase
-
Martasek P, Camadro JM, Delfau-Larue MH et al. Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc. Natl Acad. Sci. USA 1994; 91: 3024-8.
-
(1994)
Proc. Natl Acad. Sci. USA
, vol.91
, pp. 3024-3028
-
-
Martasek, P.1
Camadro, J.M.2
Delfau-Larue, M.H.3
-
7
-
-
0027445653
-
Coproporphyrinogen oxidase. Purification, molecular cloning, and induction of mRNA during erythroid differentiation
-
Kohno H, Furukawa T, Yoshinaga T, Tokunaga R, Taketani S. Coproporphyrinogen oxidase. Purification, molecular cloning, and induction of mRNA during erythroid differentiation. J. Biol. Chem. 1993; 268: 21 359-63.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 21359-21363
-
-
Kohno, H.1
Furukawa, T.2
Yoshinaga, T.3
Tokunaga, R.4
Taketani, S.5
-
8
-
-
0028125618
-
Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase
-
Taketani S, Kohno H, Furukawa T, Yoshinaga T, Tokunaga R. Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. Biochim. Biophys. Acta 1994; 1183: 547-9.
-
(1994)
Biochim. Biophys. Acta
, vol.1183
, pp. 547-549
-
-
Taketani, S.1
Kohno, H.2
Furukawa, T.3
Yoshinaga, T.4
Tokunaga, R.5
-
9
-
-
0028169056
-
Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping
-
Delfau-Larue MH, Martasek P, Grandchamp B. Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping. Hum. Mol. Genet. 1994; 3: 1325-30.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1325-1330
-
-
Delfau-Larue, M.H.1
Martasek, P.2
Grandchamp, B.3
-
10
-
-
0028940087
-
Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a heme mutant of Escherichia colt
-
Nishimura K, Taketani S, Inokuchi H. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a heme mutant of Escherichia colt. J. Biol. Ghent. 1995; 270: 8076-80.
-
(1995)
J. Biol. Ghent.
, vol.270
, pp. 8076-8080
-
-
Nishimura, K.1
Taketani, S.2
Inokuchi, H.3
-
11
-
-
0025895524
-
Assignment of human PBGD to 11q24.1→11q24.2 by in situ hybridization and gene dosage studies
-
Namba M, Narahara K, Tsuji K, Yokoyama Y, Seino Y. Assignment of human PBGD to 11q24.1→11q24.2 by in situ hybridization and gene dosage studies. Cytol. Cell. Genet. 1991; 67: 105-8.
-
(1991)
Cytol. Cell. Genet.
, vol.67
, pp. 105-108
-
-
Namba, M.1
Narahara, K.2
Tsuji, K.3
Yokoyama, Y.4
Seino, Y.5
-
12
-
-
0023713201
-
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression
-
Chretien S, Dubart A, Beaupain D et al. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc. Natl Acad. Sci. USA 1988; 85: 6-10.
-
(1988)
Proc. Natl Acad. Sci. USA
, vol.85
, pp. 6-10
-
-
Chretien, S.1
Dubart, A.2
Beaupain, D.3
-
13
-
-
0024534370
-
Two tissue-specific factors bind the erythroid promoter of the human porphobilinogen deaminase gene
-
Mignotte V, Wall I, Deboer E, Grosveld F, Romeo PH. Two tissue-specific factors bind the erythroid promoter of the human porphobilinogen deaminase gene. Nucleic Acids Res. 1989; 17: 37-54.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 37-54
-
-
Mignotte, V.1
Wall, I.2
Deboer, E.3
Grosveld, F.4
Romeo, P.H.5
-
14
-
-
0027409758
-
Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
-
Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993; 15: 21-9.
-
(1993)
Genomics
, vol.15
, pp. 21-29
-
-
Yoo, H.W.1
Warner, C.A.2
Chen, C.H.3
Desnick, R.J.4
-
15
-
-
0028001669
-
Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12
-
Cacheux V, Martasek P, Fougerousse F et al. Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12. Hum. Genet. 1994; 94: 557-9.
-
(1994)
Hum. Genet.
, vol.94
, pp. 557-559
-
-
Cacheux, V.1
Martasek, P.2
Fougerousse, F.3
-
16
-
-
0024541345
-
Tissue-specific splicing mutation in acute intermittent porphyria
-
Grandchamp B, Picat C, Mignotte V et al. Tissue-specific splicing mutation in acute intermittent porphyria. Proc. Natl Acad. Sci. USA 1989; 86: 661-4.
-
(1989)
Proc. Natl Acad. Sci. USA
, vol.86
, pp. 661-664
-
-
Grandchamp, B.1
Picat, C.2
Mignotte, V.3
-
17
-
-
0024424094
-
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
-
Grandchamp B, Picat C, Kauppinen V et al. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur. J. Clin. Invest. 1989; 19: 415-18.
-
(1989)
Eur. J. Clin. Invest.
, vol.19
, pp. 415-418
-
-
Grandchamp, B.1
Picat, C.2
Kauppinen, V.3
-
18
-
-
0028113944
-
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
-
Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. 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. J. Clin. Invest. 1994; 94: 1927-37.
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 1927-1937
-
-
Chen, C.H.1
Astrin, K.H.2
Lee, G.3
Anderson, K.E.4
Desnick, R.J.5
-
19
-
-
0025888932
-
Identification of the most common mutation within the PBGD gene in Swedish patients with acute intermittent porphyria
-
Lee JS, Anvret M. Identification of the most common mutation within the PBGD gene in Swedish patients with acute intermittent porphyria. Proc. Natl Acad. Sci. USA 1991; 88: 10912-15.
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 10912-10915
-
-
Lee, J.S.1
Anvret, M.2
-
20
-
-
0027155954
-
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria
-
Gu XF, De Rooij JS, Lee F et al. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum. Genet. 1993; 91: 128-30.
-
(1993)
Hum. Genet.
, vol.91
, pp. 128-130
-
-
Gu, X.F.1
De Rooij, J.S.2
Lee, F.3
-
21
-
-
0028347291
-
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
-
Martasek P, Nordmann Y, Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum. Mol. Genet. 1994; 3: 477-80.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 477-480
-
-
Martasek, P.1
Nordmann, Y.2
Grandchamp, B.3
-
22
-
-
0021013429
-
Harderoporphyria: A variant hereditary coproporphyria
-
Nordmann Y, Grandchamp B, De Verneuil H, Phung L, Cartigny B, Fontaine G. Harderoporphyria: A variant hereditary coproporphyria. J. Clin. Invest. 1983; 72: 1139-49.
-
(1983)
J. Clin. Invest.
, vol.72
, pp. 1139-1149
-
-
Nordmann, Y.1
Grandchamp, B.2
De Verneuil, H.3
Phung, L.4
Cartigny, B.5
Fontaine, G.6
-
23
-
-
0028927998
-
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria
-
Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum. Mol. Genet. 1995; 4: 275-8.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 275-278
-
-
Lamoril, J.1
Martasek, P.2
Deybach, J.C.3
Da Silva, V.4
Grandchamp, B.5
Nordmann, Y.6
-
24
-
-
0028032023
-
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis
-
Gu XF, De Rooij F, Voortman G et al. Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis. Hum. Genet. 1994; 93: 47-52.
-
(1994)
Hum. Genet.
, vol.93
, pp. 47-52
-
-
Gu, X.F.1
De Rooij, F.2
Voortman, G.3
-
25
-
-
0028945782
-
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
-
Kauppinen R, Mustajoki H, Pihlaja H, Peltonen L, Mustajoki P. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum. Mol. Genet. 1995; 4: 215-22.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 215-222
-
-
Kauppinen, R.1
Mustajoki, H.2
Pihlaja, H.3
Peltonen, L.4
Mustajoki, P.5
-
26
-
-
0027181454
-
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase
-
Llewellyn DH, Whatley S, Elder GH. Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase. Hum. Mol. Genet. 1993; 2: 1315-16.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1315-1316
-
-
Llewellyn, D.H.1
Whatley, S.2
Elder, G.H.3
-
27
-
-
0026808849
-
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA
-
Mgone CS, Lanyon WG, Moore MR, Connor JM. Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA. Hum. Genet. 1992; 90: 12-16.
-
(1992)
Hum. Genet.
, vol.90
, pp. 12-16
-
-
Mgone, C.S.1
Lanyon, W.G.2
Moore, M.R.3
Connor, J.M.4
-
28
-
-
0027373331
-
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria
-
Gu XF, De Rooij F, De Baar E et al. Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria. Hum. Mol. Genet. 1993; 2: 1735-6.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1735-1736
-
-
Gu, X.F.1
De Rooij, F.2
De Baar, E.3
-
29
-
-
0028043680
-
Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP
-
Letter
-
Schreiber WE, Rozon C, Fong F, Jamani A. Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP. Clin. Chem. 1994; 40: 1982-3 [Letter].
-
(1994)
Clin. Chem.
, vol.40
, pp. 1982-1983
-
-
Schreiber, W.E.1
Rozon, C.2
Fong, F.3
Jamani, A.4
-
30
-
-
0028316669
-
Identification of five novel mutations in the porphobilinogen deaminase gene
-
Mgone CS, Lanyon WG, Moore MR, Louie GV, Connor JM. Identification of five novel mutations in the porphobilinogen deaminase gene. Hum. Mol. Genet. 1994; 3: 809-11.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 809-811
-
-
Mgone, C.S.1
Lanyon, W.G.2
Moore, M.R.3
Louie, G.V.4
Connor, J.M.5
-
31
-
-
0026327963
-
Molecular heterogeneity of acute intermittent porphyria: Identification of four additional mutations resulting in the CRIM-negative subtype of the disease
-
Delfau MH, Picat C, De Rooij F et al. Molecular heterogeneity of acute intermittent porphyria: Identification of four additional mutations resulting in the CRIM-negative subtype of the disease. Am. J. Hum. Genet. 1991; 49: 421-8.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 421-428
-
-
Delfau, M.H.1
Picat, C.2
De Rooij, F.3
-
32
-
-
0025034507
-
Acute intermittent porphyria caused by a C-T mutation that produces a stop codon in the porphobilinogen deaminase gene
-
Scobie GA, Llewellyn DH, Urquhart AJ et al. Acute intermittent porphyria caused by a C-T mutation that produces a stop codon in the porphobilinogen deaminase gene. Hum. Genet. 1990; 85: 631-4.
-
(1990)
Hum. Genet.
, vol.85
, pp. 631-634
-
-
Scobie, G.A.1
Llewellyn, D.H.2
Urquhart, A.J.3
-
33
-
-
0026712533
-
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria
-
Gu XF, De Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B. High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria. Am. J. Hum. Genet. 1992; 51: 660-5.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 660-665
-
-
Gu, X.F.1
De Rooij, F.2
Voortman, G.3
Te Velde, K.4
Nordmann, Y.5
Grandchamp, B.6
-
34
-
-
0025147496
-
Two different point G to a mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria
-
Delfau MH, Picat C, De Rooij FW et al. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. J. Clin. Invest. 1990; 86: 1511-16.
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 1511-1516
-
-
Delfau, M.H.1
Picat, C.2
De Rooij, F.W.3
-
35
-
-
0028211734
-
Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria
-
Schreiber WE, Fong F, Jamani A. Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria. Hum. Genet. 1994; 93: 552-6.
-
(1994)
Hum. Genet.
, vol.93
, pp. 552-556
-
-
Schreiber, W.E.1
Fong, F.2
Jamani, A.3
-
36
-
-
0027381060
-
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
-
Mgone CS, Lanyon WG, Moore MR, Louie GV, Connor JM. Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Hum. Genet. 1993; 92: 619-22.
-
(1993)
Hum. Genet.
, vol.92
, pp. 619-622
-
-
Mgone, C.S.1
Lanyon, W.G.2
Moore, M.R.3
Louie, G.V.4
Connor, J.M.5
-
37
-
-
0027430090
-
Acute intermittent porphyria caused by aG to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping
-
Daimon M, Yamatani K, Igarashi M et al. Acute intermittent porphyria caused by aG to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. Hum. Genet. 1993; 92: 549-53.
-
(1993)
Hum. Genet.
, vol.92
, pp. 549-553
-
-
Daimon, M.1
Yamatani, K.2
Igarashi, M.3
-
38
-
-
0028209472
-
Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation
-
Daimon M, Yamatani K, Igarashi M et al. Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation. Hum. Genet. 1994; 93: 533-7.
-
(1994)
Hum. Genet.
, vol.93
, pp. 533-537
-
-
Daimon, M.1
Yamatani, K.2
Igarashi, M.3
-
39
-
-
0024326187
-
A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria
-
Grandchamp B, Picat C, De Rooij F et al. A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res. 1989; 17: 6637-9.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 6637-6639
-
-
Grandchamp, B.1
Picat, C.2
De Rooij, F.3
-
41
-
-
0028043195
-
Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria
-
Fujita H, Kondo M, Taketani S et al. Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. Hum. Mol. Genet. 1994; 3: 1807-10.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1807-1810
-
-
Fujita, H.1
Kondo, M.2
Taketani, S.3
|