A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia.
第一作者:
Kaisa,Kyöstilä
第一单位:
Department of Veterinary Biosciences, University of Helsinki, 00014, Helsinki, Finland.;Research Programs Unit, Molecular Neurology, University of Helsinki, 00014, Helsinki, Finland.;Department of Molecular Genetics, Folkhälsan Institute of Genetics, 00290, Helsinki, Finland.
作者:
医学主题词
碱性磷酸酶(Alkaline Phosphatase);氨基酸序列(Amino Acid Sequence);动物(Animals);繁殖(Breeding);钙化, 生理性(Calcification, Physiologic);保守序列(Conserved Sequence);狗疾病(Dog Diseases);狗(Dogs);乙醇胺类(Ethanolamines);女(雌)性(Female);纯合子(Homozygote);低磷酸酯酶症(Hypophosphatasia);男(雄)性(Male);突变, 误义(Mutation, Missense);骨生成(Osteogenesis);系谱(Pedigree)
DOI
10.1038/s41598-018-37801-2
PMID
30700765
发布时间
2022-12-07
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