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A novel missense mutation in the ALPL gene causes dysfunction of the protein

Mol Med Rep. 2017-07; 
ChenBin, LiLili, RenWeitong, YiLong, WangYaping, YanF
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Mutagenesis Services … The plasmid construction and site-directed mutagenesis was performed by GenScript (Nanjing, China) … Equal amounts of protein (20 µg per lane) were separated by 4–12% SDS-PAGE (GenScript, Nanjing, China) and transferred onto a polyvinylidene difluoride membrane … Get A Quote

摘要

Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict. The present study investigated the underlying mechanism of ALPL dysfunction in a patient diagnosed with HP. Bidirectional sequencing of the ALPL gene was conducted in a 5‑year‑old Chinese girl preliminary diagnosed with childhood HP. Sorting Intolerant from Tolerant (SIFT) and Polymorphism Phenotyping v2 (PolyPhen‑2) tools were used to forecast the impact of the mutati... More

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