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Novel Mutation in the ALPL Gene With a Dominant Negative Effect in a Japanese Family [PDF]
Journal of Bone and Mineral Metabolism, 2021 Introduction Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characterized clinically by defective
Tatsuya Atsumi +2 more
exaly +2 more sources
Severe Hypophosphatasia: Characterization of Fifteen Novel Mutations in the ALPL Gene
Human Mutation, 2003 Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity.
S-A Ivarsson +2 more
exaly +2 more sources
Biochemical Phenotype of Hypophosphatasia in Asymptomatic Individuals Carrying ALPL Variants
Journal of Bone and Mineral ResearchHypophosphatasia (HPP) is the rare metabolic disorder caused by variants in the ALPL gene, resulting in deficient activity of tissue-nonspecific alkaline phosphatase (ALP).
Rodrigo Montero-Lopez +2 more
exaly +2 more sources
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Different Dental Manifestations in Sisters With the Same ALPL Gene Mutation: A Report of Two Cases
Children, 2022Kazuhiko Nakano +2 more
exaly
The Effect of ALPL Gene Polymorphism on the Development of Urolithiasis in the Turkish Population
Urolithiasis, 2023Burcu Genc Yavuz +2 more
exaly
Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population
Genetic Testing and Molecular Biomarkers, 2018Junping Xing
exaly