NOVEL MISSENSE AND FRAMESHIFT MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE IN A JAPANESE PATIENT WITH HYPOPHOSPHATASIA

被引：66

作者：

ORIMO, H ^{[1
]}

HAYASHI, Z ^{[1
]}

WATANABE, A ^{[1
]}

HIRAYAMA, T ^{[1
]}

SHIMADA, T ^{[1
]}

机构：

[1] NIPPON MED COLL,DEPT PEDIAT,BUNKYO KU,TOKYO 113,JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 09期

关键词：

D O I：

10.1093/hmg/3.9.1683

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1683 / 1684

页数：2

共 14 条

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[8] ASPARTIC ACID-484 OF NASCENT PLACENTAL ALKALINE-PHOSPHATASE CONDENSES WITH A PHOSPHATIDYLINOSITOL GLYCAN TO BECOME THE CARBOXYL TERMINUS OF THE MATURE ENZYME [J].

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