[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
DOI=10.1093/hmg/3.8.1325; PubMed=7987309 [NCBI, ExPASy, EBI, Israel, Japan]
Delfau-Larue M.H.,
Martasek P.,
Grandchamp B.;
"Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping.";
Hum. Mol. Genet. 3:1325-1330(1994).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-294.
TISSUE=Brain, Placenta, and Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 73-454.
TISSUE=Placenta;
DOI=10.1016/0005-2728(94)90083-3; PubMed=8286403 [NCBI, ExPASy, EBI, Israel, Japan]
Taketani S.,
Kohno H.,
Furukawa T.,
Yoshinaga T.,
Tokunaga R.;
"Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase.";
Biochim. Biophys. Acta 1183:547-549(1994).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] OF 101-454, AND VARIANT HIS-272.
TISSUE=Foreskin;
PubMed=8159699 [NCBI, ExPASy, EBI, Israel, Japan]
Martasek P.,
Camadro J.-M.,
Delfau-Larue M.H.,
Dumas J.B.,
Montagne J.J.,
de Verneuil H.,
Labbe P.,
Grandchamp B.;
"Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.";
Proc. Natl. Acad. Sci. U.S.A. 91:3024-3028(1994).
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[5]
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PROTEOLYTIC PROCESSING.
DOI=10.1620/tjem.200.39; PubMed=12862310 [NCBI, ExPASy, EBI, Israel, Japan]
Susa S.,
Daimon M.,
Ono H.,
Li S.,
Yoshida T.,
Kato T.;
"The long, but not the short, presequence of human coproporphyrinogen oxidase is essential for its import and sorting to mitochondria.";
Tohoku J. Exp. Med. 200:39-45(2003).
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[6]
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VARIANT HCP TRP-331.
DOI=10.1093/hmg/3.3.477; PubMed=8012360 [NCBI, ExPASy, EBI, Israel, Japan]
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. 3:477-480(1994).
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[7]
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VARIANT HCP SER-189, AND VARIANTS HIS-272 AND ILE-294.
DOI=10.1093/hmg/3.10.1807; PubMed=7849704 [NCBI, ExPASy, EBI, Israel, Japan]
Fujita H.,
Kondo M.,
Taketani S.,
Nomura N.,
Furuyama K.,
Akagi R.,
Nagai T.,
Terajima M.,
Galbraith R.A.,
Sassa S.;
"Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.";
Hum. Mol. Genet. 3:1807-1810(1994).
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[8]
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VARIANT HCP GLU-404.
DOI=10.1093/hmg/4.2.275; PubMed=7757079 [NCBI, ExPASy, EBI, Israel, Japan]
Lamoril J.,
Martasek P.,
Deybach J.-C.,
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. 4:275-278(1995).
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[9]
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VARIANT HCP ARG-280.
DOI=10.1007/s004390050338; PubMed=9048920 [NCBI, ExPASy, EBI, Israel, Japan]
Daimon M.,
Gojyou E.,
Sugawara M.,
Yamatani K.,
Tominaga M.,
Sasaki H.;
"A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.";
Hum. Genet. 99:199-201(1997).
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[10]
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VARIANTS HCP 162-GLN--ALA-168 DEL AND ASP-295.
DOI=10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.3.CO;2-B; PubMed=8990017 [NCBI, ExPASy, EBI, Israel, Japan]
Lamoril J.,
Deybach J.-C.,
Puy H.,
Grandchamp B.,
Nordmann Y.;
"Three novel mutations in the coproporphyrinogen oxidase gene.";
Hum. Mutat. 9:78-80(1997).
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[11]
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VARIANTS HCP LYS-201 AND SER-249.
DOI=10.1002/(SICI)1098-1004(1997)10:3<196::AID-HUMU3>3.3.CO;2-E; PubMed=9298818 [NCBI, ExPASy, EBI, Israel, Japan]
Schreiber W.E.,
Zhang X.,
Senz J.,
Jamani A.;
"Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.";
Hum. Mutat. 10:196-200(1997).
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[12]
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VARIANTS HCP TRP-197; GLY-390 DEL AND ARG-427.
DOI=10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q; PubMed=9888388 [NCBI, ExPASy, EBI, Israel, Japan]
Rosipal R.,
Lamoril J.,
Puy H.,
da Silva V.,
Gouya L.,
de Rooij F.W.M.,
Te Velde K.,
Nordmann Y.,
Martasek P.,
Deybach J.-C.;
"Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.";
Hum. Mutat. 13:44-53(1999).
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[13]
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VARIANTS HCP PHE-208; CYS-328; TRP-331 AND CYS-447.
DOI=10.1007/s100380200059; PubMed=12181641 [NCBI, ExPASy, EBI, Israel, Japan]
Wiman A.,
Floderus Y.,
Harper P.;
"Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.";
J. Hum. Genet. 47:407-412(2002).
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[14]
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VARIANTS HCP ALA-135; ARG-214 AND ARG-249.
DOI=10.1016/j.ymgme.2004.12.012; PubMed=15896662 [NCBI, ExPASy, EBI, Israel, Japan]
To-Figueras J.,
Badenas C.,
Enriquez M.T.,
Segura S.,
Alvarez C.,
Mila M.,
Lecha M.,
Herrero C.;
"Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.";
Mol. Genet. Metab. 85:160-163(2005).
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