Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
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Relationship of structure and function of DNA-binding domain in vitamin D receptorNovel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in ChineseMouse and human BAC transgenes recapitulate tissue-specific expression of the vitamin D receptor in mice and rescue the VDR-null phenotype.Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant ricketsThe role of vitamin D receptor mutations in the development of alopeciaDetection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.The role of the vitamin D receptor and ERp57 in photoprotection by 1α,25-dihydroxyvitamin D3Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant ricketsVitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Vitamin D - Dependent Rickets, Type II Case Report.Renal rickets-practical approach.Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.Alopecia in patients with vitamin D-resistant rickets type-II.Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings.Active vitamin D deficiency mediated by extracellular calcium and phosphorus results in male infertility in young mice.
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P2860
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2010
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Hereditary 1,25-dihydroxyvitam ...... main of the vitamin D receptor
@en
Hereditary 1,25-dihydroxyvitam ...... ain of the vitamin D receptor.
@nl
type
label
Hereditary 1,25-dihydroxyvitam ...... main of the vitamin D receptor
@en
Hereditary 1,25-dihydroxyvitam ...... ain of the vitamin D receptor.
@nl
prefLabel
Hereditary 1,25-dihydroxyvitam ...... main of the vitamin D receptor
@en
Hereditary 1,25-dihydroxyvitam ...... ain of the vitamin D receptor.
@nl
P2093
P2860
P1476
Hereditary 1,25-dihydroxyvitam ...... main of the vitamin D receptor
@en
P2093
David Feldman
Jining Wang
Peter J Malloy
Tarak Srivastava
P2860
P356
10.1016/J.YMGME.2009.09.004
P577
2010-01-01T00:00:00Z