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
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
    CHIRGWIN, JM
    PRZYBYLA, AE
    MACDONALD, RJ
    RUTTER, WJ
    [J]. 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
    COULONDRE, C
    MILLER, JH
    FARABAUGH, PJ
    GILBERT, W
    [J]. NATURE, 1978, 274 (5673) : 775 - 780
  • [5] INTESTINAL ALKALINE PHOSPHATASE ACTIVITY IN FAMILIAL HYPOPHOSPHATASIA
    DANOVITCH, SH
    BAER, PN
    LASTER, L
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1968, 278 (23) : 1253 - +
  • [6] CLONING AND SEQUENCING OF BOVINE KIDNEY ALKALINE-PHOSPHATASE CDNA
    GARATTINI, E
    HUA, JC
    UDENFRIEND, S
    [J]. GENE, 1987, 59 (01) : 41 - 46
  • [7] NEW TECHNIQUE FOR ASSAY OF INFECTIVITY OF HUMAN ADENOVIRUS 5 DNA
    GRAHAM, FL
    VANDEREB, AJ
    [J]. VIROLOGY, 1973, 52 (02) : 456 - 467
  • [8] GREENBERG CR, 1988, PEDIATR RES, V23, P329
  • [9] A GENETICAL STUDY OF ETHANOLAMINE PHOSPHATE EXCRETION IN HYPOPHOSPHATASIA
    HARRIS, H
    ROBSON, EB
    [J]. ANNALS OF HUMAN GENETICS, 1959, 23 (04) : 421 - 441
  • [10] HARRIS H, 1981, HARVEY LECT, V76, P95