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Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene
Authors:Hideaki Sawai  Nozomi Kanazawa  Yuki Tsukahara  Kazunori Koike  Hideo Udagawa  Koji Koyama  Etienne Mornet
Institution:1. Laboratory of Developmental Biology and Reproduction, Institute for Advanced Medical Sciences, Hyogo College of Medicine, Nishinomiya, Japan;2. Department of Perinatal Medicine and Maternal Care, National Center for Child Health and Development, Tokyo, Japan;3. Department of Obstetrics and Gynecology, Tokyo Metropolitan Fuchu Hospital, Fuchu, Japan;4. Department of Obstetrics and Gynecology, Asahi General Hospital, Asahi, Japan;5. Laboratory of Developmental Biology and Reproduction, Institute for Advanced Medical Sciences, Hyogo College of Medicine, Nishinomiya, Japan

Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan;6. Centre d'Etudes de Biologie Prénatale—SESEP, Université de Versailles-Saint Quentin en Yvelines, Versailles, France

Abstract:
Keywords:hypophosphatasia  tissue nonspecific alkaline phosphatase  gene mutation  homozygous mutation  prenatal diagnosis
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