Article
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
Journal of bone and mineral metabolism - 1 Sept 2021
Kato Masaru, Michigami Toshimi, Tachikawa Kanako, Kato Momoko, Yabe Ichiro, Shimizu Tomohiro, Asaka Takuya, Kitagawa Yoshimasa, Atsumi Tatsuya
Abstract excerpt
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 mineralization of bone, dental problems, and low serum ALP levels. In the current report, we demonstrate a novel mutation in the ALPL gene (c.244G > A...
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