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Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

机译：利用全基因组单核苷酸多态性阵列检测染色体12单侧紊乱引起的遗传性1,25-羟维生素D抗性佝偻病。

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Mayuko Tamura; Tsuyoshi Isojima; Minae Kawashima; Hideki Yoshida; Keiko Yamamoto; Taichi Kitaoka; Noriyuki Namba; Akira Oka; Keiichi Ozono; Katsushi Tokunaga; Sachiko Kitanaka;
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1. Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene (vol 23, pg 1278, 2009) [J] . LeVine D. N., Zhou Y., Ghiloni R. J. Journal of Veterinary Internal Medicine . 2010,第1期

机译：博美犬狗中的1,25-二羟基维生素D遗传性-病是由维生素D受体基因的新突变引起的（第23卷，第1278页，2009年）
2. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. [J] . Kosuke Izumi, Avni B Santani, Matthew A Deardorff, American journal of medical genetics, Part A . 2013,第1期

机译：PRADER-WILLI综合征中的染色体15染色体的马赛克孕妇下降性：基因组SNP阵列的效用。
3. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11 [J] . C Flotho, D Steinemann, C G Mullighan, Oncogene . 2007,第39期

机译：青少年骨髓单核细胞白血病中的全基因组单核苷酸多态性分析确定了与神经纤维瘤病相关的病例中NF1基因座周围的单亲二倍体，但对于突变的RAS或PTPN11则没有
4. Genome-wide germline single nucleotide polymorphisms for cancer classification in the Framingham Heart Study [C] . Peterson Leif, Paranilam Jaya, Xu Jiaqiong, The 2010 International Joint Conference on Neural Networks . 2010

机译：全基因组种系单核苷酸多态性用于弗雷明汉心脏研究中的癌症分类
5. DNA nucleotide excision repair gene single nucleotide polymorphisms and hereditary nonpolyposis colorectal cancer. [D] . Zhang, Nianxiang. 2007

机译：DNA核苷酸切除修复基因单核苷酸多态性与遗传性非息肉性大肠癌。
6. Detection of Hereditary 125-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array [O] . Mayuko Tamura, Tsuyoshi Isojima, Minae Kawashima, -1

机译：使用全基因组单核苷酸多态性阵列检测由染色体12的单亲二倍体引起的遗传性125-羟维生素D抵抗性Ri病
7. Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance [O] . Isojima Tsuyoshi, Ishizawa Michiyasu, Yoshimura Kazuko, 2015

机译：由VDR突变引起的1,25-二羟基维生素D抗性病（HVDRR）：显性遗传的新机制
8. Genome-Wide Association Mapping for Intelligence in Military Working Dogs: Canine Cohort, Canine Intelligence Assessment Regimen, Genome-Wide Single Nucleotide Polymorphism (SNP) Typing, and Unsupervised Classification Algorithm for Genome-Wide Association Data Analysis [R] . Chan, V. T., Mauzy, C. A., Soto, A., 2011

机译：军事工作犬智力的全基因组关联图谱：犬群，犬智力评估方案，全基因组单核苷酸多态性（sNp）分型和无监督分类算法的全基因组关联数据分析

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

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