A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
about
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin D3-Resistant RicketsGenetic disorders and defects in vitamin d action.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 alopeciaCYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.Genomic structure and marker-derived gene networks for growth and meat quality traits of Brazilian Nelore beef cattleXenobiotic-sensing nuclear receptors involved in drug metabolism: a structural perspectiveCompound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopeciaPlacenta-specific methylation of the vitamin D 24-hydroxylase gene: implications for feedback autoregulation of active vitamin D levels at the fetomaternal interface.Hereditary 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.Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.The role of vitamin D and SLCO1B1*5 gene polymorphism in statin-associated myalgias.
P2860
Q33587906-3758FB20-425F-4E50-8EA0-67C44CFB7116Q33776059-F8C6CAB0-00BE-4464-A746-270BD1F4C03DQ33888779-352C7F4F-26B5-47AD-AEEE-9C85ACF0639EQ35158809-8EB2AEE4-36E5-4712-BECE-546606E56769Q35388758-588E8426-64DE-48ED-856F-A35E9BCCC7A1Q35813253-89181D89-639C-4255-9C39-52CA9AA3966CQ35958423-78CD3825-45B5-41C8-AE14-FBAAF0CFC67EQ36931713-6F38C557-012B-438B-988F-487C1AAE76EAQ37137466-4E92444C-6345-4F05-84E1-63BB51ABAC60Q37200849-980EF466-43EE-462F-BB3C-F4FF102DD6B0Q37480264-B33C8706-A4A4-40B8-B744-A7F75773D44FQ37600577-D5517666-C2C2-4837-AA6A-20E4441D77CAQ42002009-E14229D4-1778-4C61-99CC-F4B0B64752F9Q42721442-0337664C-B8FE-4859-BF16-ADAD35A6A47F
P2860
A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
A unique insertion/duplication ...... tant rickets without alopecia.
@en
A unique insertion/duplication ...... tant rickets without alopecia.
@nl
type
label
A unique insertion/duplication ...... tant rickets without alopecia.
@en
A unique insertion/duplication ...... tant rickets without alopecia.
@nl
prefLabel
A unique insertion/duplication ...... tant rickets without alopecia.
@en
A unique insertion/duplication ...... tant rickets without alopecia.
@nl
P2093
P2860
P1476
A unique insertion/duplication ...... tant rickets without alopecia.
@en
P2093
Catherine C Thompson
David Feldman
Jeanne M Sisk
Jining Wang
Lihong Peng
Peter J Malloy
Sunil Nayak
P2860
P304
P356
10.1016/J.ABB.2006.09.027
P407
P577
2006-10-16T00:00:00Z