Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.
about
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.Mouse and human BAC transgenes recapitulate tissue-specific expression of the vitamin D receptor in mice and rescue the VDR-null phenotype.Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.Genetic disorders and defects in vitamin d action.Insights into genetic and epigenetic determinants with impact on vitamin d signaling and cancer association studies: the case of thyroid cancer.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 alopeciaHereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptorVitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Vitamin D - Dependent Rickets, Type II Case Report.Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D.Genetic Causes of Rickets.
P2860
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P2860
Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 10 June 2009
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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 vitamin D resistant ...... ent with oral calcium therapy.
@en
Hereditary vitamin D resistant ...... ent with oral calcium therapy.
@nl
type
label
Hereditary vitamin D resistant ...... ent with oral calcium therapy.
@en
Hereditary vitamin D resistant ...... ent with oral calcium therapy.
@nl
prefLabel
Hereditary vitamin D resistant ...... ent with oral calcium therapy.
@en
Hereditary vitamin D resistant ...... ent with oral calcium therapy.
@nl
P2093
P2860
P1433
P1476
Hereditary vitamin D resistant ...... ent with oral calcium therapy.
@en
P2093
Daina Dreimane
David Feldman
Mitchell E Geffner
Peter J Malloy
Pisit Pitukcheewanont
P2860
P304
P356
10.1016/J.BONE.2009.06.003
P577
2009-06-10T00:00:00Z