A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection
about
Mutations of the basic amino acid transporter gene associated with cystinuriaTwo mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3Vitamin D receptor Fok1 polymorphism and blood lead concentration in childrenVitamin D receptor gene polymorphisms in breast and renal cancer: current state and future approaches (review)A prospective study of plasma vitamin D metabolites, vitamin D receptor polymorphisms, and prostate cancerAssociation of vitamin D receptor polymorphisms with the risk of prostate cancer in the Han population of Southern ChinaMultifunctional enhancers regulate mouse and human vitamin D receptor gene transcription.Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam studyGenetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta geneVitamin D and skin cancer.Vitamin D receptor protein expression in tumor tissue and prostate cancer progression.Association between vitamin D receptor gene polymorphisms and chronic periodontitis among LibyansThe role of vitamin D receptor mutations in the development of alopeciaSequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosisVitamin D receptor (VDR) polymorphisms and skin cancer: A systematic review.FokI polymorphism, vitamin D receptor, and interleukin-1 receptor haplotypes are associated with type 1 diabetes in the Dalmatian population.Association between vitamin D receptor gene haplotypes and chronic periodontitis among Japanese men.A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.Very important pharmacogene summary for VDR.Evaluation of VDR gene polymorphisms in Trypanosoma cruzi infection and chronic Chagasic cardiomyopathy.Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.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.Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts.Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Vitamin D receptor gene FokI but not TaqI, ApaI, BsmI polymorphism is associated with Hashimoto's thyroiditis: a meta-analysis.Vitamin D, folate, and potential early lifecycle environmental origin of significant adult phenotypes.Vitamin D receptor gene polymorphisms and cognitive decline in Parkinson's disease.Vitamin D Receptor Gene Polymorphisms Associated with Childhood AutismA unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.Association of vitamin D receptor gene polymorphisms with diabetic dyslipidemia in the elderly male population in North China.Stop codon readthrough generates a C-terminally extended variant of the human vitamin D receptor with reduced calcitriol response.Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder.Vitamin D receptor polymorphism rs2228570 is significantly associated with risk of dyslipidemia and serum LDL levels in Chinese Han population
P2860
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P2860
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A unique mutation in the vitam ...... heterozygous carrier detection
@ast
A unique mutation in the vitam ...... heterozygous carrier detection
@en
A unique mutation in the vitam ...... heterozygous carrier detection
@nl
type
label
A unique mutation in the vitam ...... heterozygous carrier detection
@ast
A unique mutation in the vitam ...... heterozygous carrier detection
@en
A unique mutation in the vitam ...... heterozygous carrier detection
@nl
prefLabel
A unique mutation in the vitam ...... heterozygous carrier detection
@ast
A unique mutation in the vitam ...... heterozygous carrier detection
@en
A unique mutation in the vitam ...... heterozygous carrier detection
@nl
P2093
P2860
P921
P3181
P1476
A unique mutation in the vitam ...... heterozygous carrier detection
@en
P2093
P2860
P304
P3181
P407
P577
1991-09-01T00:00:00Z