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

被引：301
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
相关论文
共 41 条
[1]  
[Anonymous], METABOLIC BASIS INHE
[2]   ISOLATION OF BIOLOGICALLY-ACTIVE RIBONUCLEIC-ACID FROM SOURCES ENRICHED IN RIBONUCLEASE [J].
CHIRGWIN, JM ;
PRZYBYLA, AE ;
MACDONALD, RJ ;
RUTTER, WJ .
BIOCHEMISTRY, 1979, 18 (24) :5294-5299
[3]  
CHODIRKER B N, 1987, Genomics, V1, P280, DOI 10.1016/0888-7543(87)90056-5
[4]   MOLECULAR-BASIS OF BASE SUBSTITUTION HOTSPOTS IN ESCHERICHIA-COLI [J].
COULONDRE, C ;
MILLER, JH ;
FARABAUGH, PJ ;
GILBERT, W .
NATURE, 1978, 274 (5673) :775-780
[5]   INTESTINAL ALKALINE PHOSPHATASE ACTIVITY IN FAMILIAL HYPOPHOSPHATASIA [J].
DANOVITCH, SH ;
BAER, PN ;
LASTER, L .
NEW ENGLAND JOURNAL OF MEDICINE, 1968, 278 (23) :1253-+
[6]   CLONING AND SEQUENCING OF BOVINE KIDNEY ALKALINE-PHOSPHATASE CDNA [J].
GARATTINI, E ;
HUA, JC ;
UDENFRIEND, S .
GENE, 1987, 59 (01) :41-46
[7]   NEW TECHNIQUE FOR ASSAY OF INFECTIVITY OF HUMAN ADENOVIRUS 5 DNA [J].
GRAHAM, FL ;
VANDEREB, AJ .
VIROLOGY, 1973, 52 (02) :456-467
[8]  
GREENBERG CR, 1988, PEDIATR RES, V23, P329
[9]   A GENETICAL STUDY OF ETHANOLAMINE PHOSPHATE EXCRETION IN HYPOPHOSPHATASIA [J].
HARRIS, H ;
ROBSON, EB .
ANNALS OF HUMAN GENETICS, 1959, 23 (04) :421-441
[10]  
HARRIS H, 1981, HARVEY LECT, V76, P95
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