LARON DWARFISM AND MUTATIONS OF THE GROWTH HORMONE-RECEPTOR GENE

被引:286
作者
AMSELEM, S
DUQUESNOY, P
ATTREE, O
NOVELLI, G
BOUSNINA, S
POSTELVINAY, MC
GOOSSENS, M
机构
[1] CHU HENRI MONDOR,SERV BIOCHEM,F-94010 CRETEIL,FRANCE
[2] CHU HENRI MONDOR,INSERM,U91,F-94010 CRETEIL,FRANCE
[3] CATTEDRA GENET,URBINO,ITALY
[4] HOP ENFANTS TUNIS,SERV PEDIAT,TUNIS,TUNISIA
[5] HOP ENFANTS MALADES,INSERM,U30,PARIS,FRANCE
关键词
D O I
10.1056/NEJM198910123211501
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:989 / 995
页数:7
相关论文
共 31 条
[1]   MUTATIONS IN THE CATALYTIC DOMAIN OF HUMAN COAGULATION FACTOR-IX - RAPID CHARACTERIZATION BY DIRECT GENOMIC SEQUENCING OF DNA FRAGMENTS DISPLAYING AN ALTERED MELTING BEHAVIOR [J].
ATTREE, O ;
VIDAUD, D ;
VIDAUD, M ;
AMSELEM, S ;
LAVERGNE, JM ;
GOOSSENS, M .
GENOMICS, 1989, 4 (03) :266-272
[2]   ABSENCE OF THE PLASMA GROWTH HORMONE-BINDING PROTEIN IN LARON-TYPE DWARFISM [J].
BAUMANN, G ;
SHAW, MA ;
WINTER, RJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1987, 65 (04) :814-816
[3]   A SPECIFIC GROWTH HORMONE-BINDING PROTEIN IN HUMAN-PLASMA - INITIAL CHARACTERIZATION [J].
BAUMANN, G ;
STOLAR, MW ;
AMBURN, K ;
BARSANO, CP ;
DEVRIES, BC .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1986, 62 (01) :134-141
[4]   CLONING AND EXPRESSION OF THE RAT PROLACTIN RECEPTOR, A MEMBER OF THE GROWTH-HORMONE PROLACTIN RECEPTOR GENE FAMILY [J].
BOUTIN, JM ;
JOLICOEUR, C ;
OKAMURA, H ;
GAGNON, J ;
EDERY, M ;
SHIROTA, M ;
BANVILLE, D ;
DUSANTERFOURT, I ;
DJIANE, J ;
KELLY, PA .
CELL, 1988, 53 (01) :69-77
[5]   ABSENCE OF SERUM GROWTH-HORMONE BINDING-PROTEIN IN PATIENTS WITH GROWTH-HORMONE RECEPTOR DEFICIENCY (LARON DWARFISM) [J].
DAUGHADAY, WH ;
TRIVEDI, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (13) :4636-4640
[6]   IDENTIFICATION AND SEQUENCE-ANALYSIS OF A 2ND FORM OF PROLACTIN RECEPTOR BY MOLECULAR-CLONING OF COMPLEMENTARY-DNA FROM RABBIT MAMMARY-GLAND [J].
EDERY, M ;
JOLICOEUR, C ;
LEVIMEYRUEIS, C ;
DUSANTERFOURT, I ;
PETRIDOU, B ;
BOUTIN, JM ;
LESUEUR, L ;
KELLY, PA ;
DJIANE, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (06) :2112-2116
[7]   LARONS DWARFISM - STUDIES ON NATURE OF DEFECT [J].
ELDERS, MJ ;
GARLAND, JT ;
DAUGHADA.A ;
FISHER, DA ;
WHITNEY, JE ;
HUGHES, ER .
JOURNAL OF PEDIATRICS, 1973, 83 (02) :253-263
[8]  
ESHET R, 1984, ISRAEL J MED SCI, V20, P8
[9]   A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].
FEINBERG, AP ;
VOGELSTEIN, B .
ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13
[10]   ESTIMATION OF SOMATOMEDIN-C LEVELS IN NORMALS AND PATIENTS WITH PITUITARY DISEASE BY RADIOIMMUNOASSAY [J].
FURLANETTO, RW ;
UNDERWOOD, LE ;
VANWYK, JJ ;
DERCOLE, AJ .
JOURNAL OF CLINICAL INVESTIGATION, 1977, 60 (03) :648-657