[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS AKU SER-230 AND GLY-300.
DOI=10.1038/ng0996-19; PubMed=8782815 [NCBI, ExPASy, EBI, Israel, Japan]
Fernandez-Canon J.M.,
Granadino B.,
Beltran-Valero de Bernabe D.,
Renedo M.,
Fernandez-Ruiz E.,
Penalva M.A.,
Rodriguez de Cordoba S.;
"The molecular basis of alkaptonuria.";
Nat. Genet. 14:19-24(1996).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
Ramos S.,
Hernandez M.,
Rozes A.,
Larruga J.,
Gonzalez P.,
Cabrera V.M.;
"Homogentisate 1,2-dioxygenase human cDNA sequence.";
Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.1997.4805; PubMed=9244427 [NCBI, ExPASy, EBI, Israel, Japan]
Granadino B.,
Beltran-Valero de Bernabe D.,
Fernandez-Canon J.M.,
Penalva M.A.,
Rodriguez de Cordoba S.;
"The human homogentisate 1,2-dioxygenase (HGO) gene.";
Genomics 43:115-122(1997).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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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[5]
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X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS).
DOI=10.1038/76756; PubMed=10876237 [NCBI, ExPASy, EBI, Israel, Japan]
Titus G.P.,
Mueller H.A.,
Burgner J.,
Rodriguez de Cordoba S.,
Penalva M.A.,
Timm D.E.;
"Crystal structure of human homogentisate dioxygenase.";
Nat. Struct. Biol. 7:542-546(2000).
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[6]
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VARIANT AKU ARG-161.
PubMed=9154114 [NCBI, ExPASy, EBI, Israel, Japan]
Gehrig A.,
Schmidt S.R.,
Mueller C.R.,
Srsen S.,
Srsnova K.,
Kress W.;
"Molecular defects in alkaptonuria.";
Cytogenet. Cell Genet. 76:14-16(1997).
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[7]
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VARIANTS AKU ALA-42; GLY-97; GLY-153; ILE-189; THR-216; HIS-225; SER-227 AND VAL-368.
DOI=10.1086/301805; PubMed=9529363 [NCBI, ExPASy, EBI, Israel, Japan]
Beltran-Valero de Bernabe D.,
Granadino B.,
Chiarelli I.,
Porfirio B.,
Mayatepek E.,
Aquaron R.,
Moore M.M.,
Festen J.J.M.,
Sanmarti R.,
Penalva M.A.,
de Cordoba S.R.;
"Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.";
Am. J. Hum. Genet. 62:776-784(1998).
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[8]
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VARIANT AKU LYS-168.
PubMed=9630082 [NCBI, ExPASy, EBI, Israel, Japan]
Higashino K.,
Liu W.,
Ohkawa T.,
Yamamoto T.,
Fukui K.,
Ohno M.,
Imanishi H.,
Iwasaki A.,
Amuro Y.,
Hada T.;
"A novel point mutation associated with alkaptonuria.";
Clin. Genet. 53:228-229(1998).
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[9]
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VARIANTS AKU GLY-60; CYS-62; ASP-122; THR-230 AND GLU-291.
DOI=10.1086/302376; PubMed=10205262 [NCBI, ExPASy, EBI, Israel, Japan]
Beltran-Valero de Bernabe D.,
Jimenez F.J.,
Aquaron R.,
Rodriguez de Cordoba S.;
"Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).";
Am. J. Hum. Genet. 64:1316-1322(1999).
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[10]
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VARIANTS AKU PRO-25 AND VAL-368.
TISSUE=Leukocyte;
PubMed=10340975 [NCBI, ExPASy, EBI, Israel, Japan]
Felbor U.,
Mutsch Y.,
Grehn F.,
Mueller C.R.,
Kress W.;
"Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.";
Br. J. Ophthalmol. 83:680-683(1999).
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[11]
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VARIANTS AKU PRO-25; ARG-161; SER-230; ARG-270; GLY-300 AND VAL-368.
TISSUE=Lymphocyte;
DOI=10.1038/sj.ejhg.5200343; PubMed=10482952 [NCBI, ExPASy, EBI, Israel, Japan]
Mueller C.R.,
Fregin A.,
Srsen S.,
Srsnova K.,
Halliger-Keller B.,
Felbor U.,
Seemanova E.,
Kress W.;
"Allelic heterogeneity of alkaptonuria in Central Europe.";
Eur. J. Hum. Genet. 7:645-651(1999).
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[12]
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VARIANTS AKU SER-330; VAL-368 AND ARG-371.
PubMed=10594001 [NCBI, ExPASy, EBI, Israel, Japan]
Beltran-Valero de Bernabe D.,
Peterson P.,
Luopajarvi K.,
Matintalo P.,
Alho A.,
Konttinen Y.,
Krohn K.,
Rodriguez de Cordoba S.,
Ranki A.;
"Mutational analysis of the HGO gene in Finnish alkaptonuria patients.";
J. Med. Genet. 36:922-923(1999).
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