Article
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
Journal of human genetics - 1 Feb 2011
Watanabe Atsushi, Karasugi Tatsuki, Sawai Hideaki, Naing Banyar Than, Ikegawa Shiro, Orimo Hideo, Shimada Takashi
Abstract excerpt
Hypophosphatasia (HPP) is an inherited disorder caused by mutations in ALPL that encodes an isozyme of alkaline phosphatase (ALP), TNSALP. One of the most frequent ALPL mutations is c.1559delT, which causes the most severe HPP, the perinatal (lethal) form (pl-HPP). c.1559delT has been found only...
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