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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
1998-3-5
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pubmed:abstractText |
Pseudovitamin D-deficiency rickets is characterized by the early onset of rickets with hypocalcemia and is thought to be caused by a deficit in renal 25-hydroxyvitamin D3 1alpha-hydroxylase, the key enzyme for the synthesis of 1alpha,25-dihydroxyvitamin D3.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0028-4793
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pubmed:author |
pubmed-author:HasegawaYY,
pubmed-author:KatoSS,
pubmed-author:KitanakaSS,
pubmed-author:MurayamaAA,
pubmed-author:NiimiHH,
pubmed-author:NogamiMM,
pubmed-author:OkumuraKK,
pubmed-author:SatoTT,
pubmed-author:TakeyamaKK,
pubmed-author:TanakaTT,
pubmed-author:YanagisawaJJ
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pubmed:issnType |
Print
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pubmed:day |
5
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pubmed:volume |
338
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
653-61
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9486994-25-Hydroxyvitamin D3 1-alpha-Hydroxylase,
pubmed-meshheading:9486994-Base Sequence,
pubmed-meshheading:9486994-Chromosome Mapping,
pubmed-meshheading:9486994-Chromosomes, Human, Pair 12,
pubmed-meshheading:9486994-Cloning, Molecular,
pubmed-meshheading:9486994-DNA, Complementary,
pubmed-meshheading:9486994-DNA Mutational Analysis,
pubmed-meshheading:9486994-Female,
pubmed-meshheading:9486994-Humans,
pubmed-meshheading:9486994-Male,
pubmed-meshheading:9486994-Mutation,
pubmed-meshheading:9486994-Pedigree,
pubmed-meshheading:9486994-Rickets,
pubmed-meshheading:9486994-Sequence Analysis, DNA,
pubmed-meshheading:9486994-Vitamin D Deficiency
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pubmed:year |
1998
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pubmed:articleTitle |
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
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pubmed:affiliation |
Institute of Molecular and Cellular Biosciences, University of Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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