Perinatal hypophosphatasia caused by uniparental isodisomy.-论文-万方医学网

第一作者： Atsushi,Watanabe

第一单位： Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. Electronic address: aw3703@nms.ac.jp.

作者： Atsushi,Watanabe ^[1] ; Shuhei,Satoh ^[2] ; Atsushi,Fujita ^[3] ; Banyar Than,Naing ^[3] ; Hideo,Orimo ^[3] ; Takashi,Shimada ^[4]

作者单位： Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. Electronic address: aw3703@nms.ac.jp. ^[1] Aomori Prefectural Central Hospital, Aomori, Japan. ^[2] Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. ^[3] Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. ^[4]

医学主题词成年人(Adult);碱性磷酸酶(Alkaline Phosphatase);碱基序列(Base Sequence);染色体, 人, 1对(Chromosomes, Human, Pair 1);细胞遗传学分析(Cytogenetic Analysis);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);人类(Humans);低磷酸酯酶症(Hypophosphatasia);婴儿, 新生(Infant, Newborn);杂合子丢失(Loss of Heterozygosity);男(雄)性(Male);微卫星重复(Microsatellite Repeats);分子序列数据(Molecular Sequence Data);突变(Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);妊娠(Pregnancy);放射摄影术(Radiography);超声检查(Ultrasonography);单亲二体性(Uniparental Disomy)

DOI 10.1016/j.bone.2013.12.009

PMID 24334170

发布时间 2016-11-25

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Perinatal hypophosphatasia caused by uniparental isodisomy.

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Perinatal hypophosphatasia caused by uniparental isodisomy.

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