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A MISSENSE MUTATION IN THE HUMAN-LIVER BONE KIDNEY ALKALINE-PHOSPHATASE GENE CAUSING A LETHAL FORM OF HYPOPHOSPHATASIA

被引：298
作者：
WEISS, MJ
COLE, DEC
RAY, K
WHYTE, MP
LAFFERTY, MA
MULIVOR, RA
HARRIS, H
机构：
[1] UNIV PENN,SCH MED,DEPT HUMAN GENET,PHILADELPHIA,PA 19104
[2] DALHOUSIE UNIV,DEPT PEDIAT,HALIFAX B3J 3G9,NS,CANADA
[3] CORIELL INST MED RES,CAMDEN,NJ 08103
[4] WASHINGTON UNIV,SCH MED,DIV BONE & MINERAL DIS,ST LOUIS,MO 63110
来源：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1988年 / 85卷 / 20期
关键词：
D O I：
10.1073/pnas.85.20.7666
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
引用
收藏
页码：7666 / 7669
页数：4
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