Six ALPL gene variants in five children with hypophosphatasia

Denise Goodbar June 30, 2021

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Categories: Scientific Publications, Scientific Publications (old)

Tags: alkaline phosphatase, gene variant, hypophosphatasia, liver/bone/kidney alkaline phosphatase gene (ALPL gene), pathogenic mechanism

Patient of the Month- Janni K.

If you would like to make a donation to Soft Bones in honor of Janni, please click the button below! Donate Here My name is…

Margaret Robb April 30, 2024

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Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene

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Margaret Robb November 22, 2023

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New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

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The Global ALPL gene variant classification project: Dedicated to deciphering variants

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Laiken, Rowan and their Family’s HPP Journey

At fifteen weeks pregnant my husband and I decided to have an elective ultrasound performed for gender confirmation at our local OB/GYN office in Jamestown,…

Taralyn Naslonski November 6, 2020

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