Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.
第一作者:
K E,White
第一单位:
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
作者:
主题词
氨基酸序列(Amino Acid Sequence);氨基酸取代(Amino Acid Substitution);碱基序列(Base Sequence);印迹法, RNA(Blotting, Northern);催化域(Catalytic Domain);染色体, 人, 12对(Chromosomes, Human, Pair 12);克隆, 分子(Cloning, Molecular);DNA(DNA);DNA突变分析(DNA Mutational Analysis);DNA, 互补(DNA, Complementary);外显子(Exons);女(雌)性(Female);基因表达调控, 酶学(Gene Expression Regulation, Enzymologic);基因(Genes);基因, 显性(Genes, Dominant);人类(Humans);低磷血症, 家族性(Hypophosphatemia, Familial);内含子(Introns);分子序列数据(Molecular Sequence Data);突变(Mutation);N-乙酰氨基半乳糖转移酶类(N-Acetylgalactosaminyltransferases);多态现象, 遗传(Polymorphism, Genetic);多态现象, 单链构象(Polymorphism, Single-Stranded Conformational);RNA, 信使(RNA, Messenger);序列比对(Sequence Alignment);序列分析, DNA(Sequence Analysis, DNA);序列同源性, 氨基酸(Sequence Homology, Amino Acid);组织分布(Tissue Distribution)
DOI
10.1016/s0378-1119(00)00050-0
PMID
10767557
发布时间
2023-12-13
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