Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP. The most frequent pathogenic variant in Japanese patients with HPP is a frameshift mutation...

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Bibliographic Details
Main Authors: Hiroshi Kitoh, Masako Izawa, Hiroshi Kaneko, Akiko Kitamura, Saori Matsuyama, Kohji Kato, Tomoo Ogi
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Bone Reports
Subjects:
Hypophosphatasia
Alkaline phosphatase
ALPL gene
c.1559delT
Enzyme replacement therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187222004600

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http://www.sciencedirect.com/science/article/pii/S2352187222004600

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