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Items: 1 to 20 of 85

1.

Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation.

Gorman CS, Gill D, Darby C, Crowley V, Mahony MJ.

Ir Med J. 2008 Apr;101(4):125. No abstract available.

PMID:
18557518
2.

Four novel mutations of the coproporphyrinogen III oxidase gene.

Aurizi C, Lupia Palmieri G, Barbieri L, Macrì A, Sorge F, Usai G, Biolcati G.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):15-8.

PMID:
19267996
3.

Novel human pathological mutations. Gene symbol: CPOX. Disease: Coproporphyria.

Ausenda S, Di Pierro E, Brancaleoni V, Tavazzi D, Cappellini MD.

Hum Genet. 2009 Aug;126(2):342. No abstract available.

PMID:
19694028
4.

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

To-Figueras J, Badenas C, Enríquez MT, Segura S, Alvarez C, Milà M, Lecha M, Herrero C.

Mol Genet Metab. 2005 Jun;85(2):160-3. Epub 2005 Feb 25.

PMID:
15896662
5.

Gene symbol: CPOX.

Ausenda S, Di Pierro E, Besana V, Brancaleoni V, Cappellini MD.

Hum Genet. 2007 Apr;121(2):296. No abstract available.

PMID:
17598218
6.

A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.

Daimon M, Gojyou E, Sugawara M, Yamatani K, Tominaga M, Sasaki H.

Hum Genet. 1997 Feb;99(2):199-201.

PMID:
9048920
7.

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H.

Hum Mol Genet. 2005 Oct 15;14(20):3089-98. Epub 2005 Sep 13.

PMID:
16159891
8.

Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.

Susa S, Daimon M, Kondo H, Kondo M, Yamatani K, Sasaki H.

Am J Med Genet. 1998 Nov 16;80(3):204-6.

PMID:
9843038
9.

Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.

Barbaro M, Kotajärvi M, Harper P, Floderus Y.

Clin Genet. 2012 Mar;81(3):249-56. doi: 10.1111/j.1399-0004.2011.01628.x. Epub 2011 Feb 6.

PMID:
21231929
10.

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

Rudd A, Grant J, Varigos G, Morgan V, Winship I.

Australas J Dermatol. 2013 May;54(2):e50-2. doi: 10.1111/j.1440-0960.2011.00875.x. Epub 2012 Mar 21.

PMID:
23582006
11.

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.

Hum Mol Genet. 1995 Feb;4(2):275-8.

PMID:
7757079
13.

A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family.

Susa S, Daimon M, Yamamori I, Kondo M, Yamatani K, Sasaki H, Kato T.

J Hum Genet. 1998;43(3):182-4.

PMID:
9747031
14.

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, Phillips JD, Sassa S.

Br J Haematol. 2006 Jan;132(2):237-43. Erratum in: Br J Haematol. 2006 Mar;132(5):662.

PMID:
16398658
15.

Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

Gross U, Puy H, Kühnel A, Meissauer U, Deybach JC, Jacob K, Martasek P, Nordmann Y, Doss MO.

Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):49-55. Review.

PMID:
11929047
16.

The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.

Kim DH, Hino R, Adachi Y, Kobori A, Taketani S.

J Biochem. 2013 Dec;154(6):551-9. doi: 10.1093/jb/mvt086. Epub 2013 Sep 26.

PMID:
24078084
18.

DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria.

Petersen NE, Käehne M, Christiansen L, Brock A, Hother-Nielsen O, Rasmussen K.

Scand J Clin Lab Invest. 2000 Nov;60(7):617-25.

PMID:
11202054
19.

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.

van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J.

J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7.

20.

Structural basis of hereditary coproporphyria.

Lee DS, Flachsová E, Bodnárová M, Demeler B, Martásek P, Raman CS.

Proc Natl Acad Sci U S A. 2005 Oct 4;102(40):14232-7. Epub 2005 Sep 21.

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