换一批
换一批A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.
作者：
主题词
氨基酸序列(Amino Acid Sequence);动物(Animals);碱基序列(Base Sequence);骨和骨组织(Bone and Bones);染色体, 哺乳动物(Chromosomes, Mammalian);狗(Dogs);侏儒症(Dwarfism);女(雌)性(Female);基因检测(Genetic Testing);全基因组关联研究(Genome-Wide Association Study);葡糖醛酸糖苷酶(Glucuronidase);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);黏多糖累积病Ⅶ型(Mucopolysaccharidosis VII);突变, 误义(Mutation, Missense);骨软骨发育不良(Osteochondrodysplasias);骨生成(Osteogenesis)
DOI
10.1371/journal.pone.0040281
PMID
22815736
发布时间
2021-10-21
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