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Hypophosphatasia due to uniparental disomy.

作者信息

Hancarova Miroslava, Krepelova Anna, Puchmajerova Alena, Soucek Ondrej, Prchalova Darina, Sumnik Zdenek, Sedlacek Zdenek

机构信息

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

出版信息

Bone. 2015 Dec;81:765-766. doi: 10.1016/j.bone.2015.04.041. Epub 2015 May 1.

DOI:10.1016/j.bone.2015.04.041
PMID:25937451
Abstract
摘要

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Revisiting the Genetics of Hypophosphatasia.重新审视低磷酸酯酶症的遗传学
J Inherit Metab Dis. 2025 Nov;48(6):e70083. doi: 10.1002/jimd.70083.
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Characterization of tracheobronchomalacia in infants with hypophosphatasia.磷酸酶减少症婴儿的气管支气管软化症特征。
Orphanet J Rare Dis. 2020 Aug 6;15(1):204. doi: 10.1186/s13023-020-01483-9.