[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=9428799 [NCBI, ExPASy, EBI, Israel, Japan]
Fu G.K.,
Portale A.P.,
Miller W.L.;
"Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha.";
DNA Cell Biol. 16:1499-1507(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
TISSUE=Kidney;
DOI=10.1006/bbrc.1997.7508; PubMed=9344864 [NCBI, ExPASy, EBI, Israel, Japan]
Monkawa T.,
Yoshida T.,
Wakino S.,
Shinki T.,
Anazawa H.,
Deluca H.F.,
Suda T.,
Hayashi M.,
Saruta T.;
"Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.";
Biochem. Biophys. Res. Commun. 239:527-533(1997).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1210/me.11.13.1961; PubMed=9415400 [NCBI, ExPASy, EBI, Israel, Japan]
Fu G.K.,
Lin D.,
Zhang Y.H.,
Bikle D.D.,
Shackleton C.H.,
Miller W.L.,
Portale A.A.;
"Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.";
Mol. Endocrinol. 11:1961-1970(1997).
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[4]
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NUCLEOTIDE SEQUENCE.
Huang D.C.,
Papavasiliou J.,
Rhim J.,
Kremer R.;
"Targeted disruption of the 25-hydroxyvitamin D3 1 a-hydroxylase gene in a Ras-transformed human keratinocyte cell line: evidence for an autocrine growth regulatory function of 1 alpha, 25-dihydroxyvitamin D3 in vitro and in vivo.";
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-166.
Rieder M.J.,
Livingston R.J.,
Daniels M.R.,
Chung M.-W.,
Miyamoto K.E.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Witrak L.A.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
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[6]
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VARIANTS VDDR I HIS-107; GLU-125; PRO-335 AND SER-382.
DOI=10.1056/NEJM199803053381004; PubMed=9486994 [NCBI, ExPASy, EBI, Israel, Japan]
Kitanaka S.,
Takeyama K.,
Murayama A.,
Sato T.,
Okumura K.,
Nogami M.,
Hasegawa Y.,
Niimi H.,
Yanagisawa J.,
Tanaka T.,
Kato S.;
"Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.";
N. Engl. J. Med. 338:653-661(1998).
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[7]
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VARIANTS VDDR I HIS-65; LYS-189; HIS-389; ILE-409; PRO-429; CYS-453 AND ARG-497.
DOI=10.1086/302156; PubMed=9837822 [NCBI, ExPASy, EBI, Israel, Japan]
Wang J.T.,
Lin C.-J.,
Burridge S.M.,
Fu G.K.,
Labuda M.,
Portale A.A.,
Miller W.L.;
"Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families.";
Am. J. Hum. Genet. 63:1694-1702(1998).
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[8]
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VARIANTS VDDR I TYR-323 AND GLY-478.
PubMed=10320521 [NCBI, ExPASy, EBI, Israel, Japan]
Smith S.J.,
Rucka A.K.,
Berry J.L.,
Davies M.,
Mylchreest S.,
Paterson C.R.,
Heath D.A.,
Tassabehji M.,
Read A.P.,
Mee A.P.,
Mawer E.B.;
"Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.";
J. Bone Miner. Res. 14:730-739(1999).
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[9]
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VARIANTS VDDR I ARG-321 AND CYS-389.
DOI=10.1210/jc.84.11.4111; PubMed=10566658 [NCBI, ExPASy, EBI, Israel, Japan]
Kitanaka S.,
Murayama A.,
Sakaki T.,
Inouye K.,
Seino Y.,
Fukumoto S.,
Shima M.,
Yukizane S.,
Takayanagi M.,
Niimi H.,
Takeyama K.,
Kato S.;
"No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.";
J. Clin. Endocrinol. Metab. 84:4111-4117(1999).
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[10]
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VARIANTS VDDR I GLY-189; PHE-343; GLY-389; HIS-389 AND ILE-409.
DOI=10.1210/jc.87.6.2424; PubMed=12050193 [NCBI, ExPASy, EBI, Israel, Japan]
Wang X.,
Zhang M.Y.,
Miller W.L.,
Portale A.A.;
"Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.";
J. Clin. Endocrinol. Metab. 87:2424-2430(2002).
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