EVIDENCE AGAINST THE STRUCTURAL GENE ENCODING TYPE-II COLLAGEN (COL2A1) AS THE MUTANT LOCUS IN ACHONDROPLASIA

被引:27
作者
OGILVIE, D
WORDSWORTH, P
THOMPSON, E
SYKES, B
机构
[1] UNIV OXFORD,JOHN RADCLIFFE HOSP,NUFFIELD DEPT PATHOL,OXFORD OX3 9DU,ENGLAND
[2] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND
关键词
D O I
10.1136/jmg.23.1.19
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:19 / 22
页数:4
相关论文
共 18 条
[1]  
BODMER WF, 1976, GENETICS EVOLUTION M, P287
[2]   IDENTIFICATION AND CHARACTERIZATION OF THE HUMAN TYPE-II COLLAGEN GENE (COL2A1) [J].
CHEAH, KSE ;
STOKER, NG ;
GRIFFIN, JR ;
GROSVELD, FG ;
SOLOMON, E .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (09) :2555-2559
[3]  
GARDNER RJM, 1977, CLIN GENET, V11, P31
[4]  
HOLLISTER DW, 1982, ADV HUM GENET, V12, P1
[5]   HYPERVARIABLE MINISATELLITE REGIONS IN HUMAN DNA [J].
JEFFREYS, AJ ;
WILSON, V ;
THEIN, SL .
NATURE, 1985, 314 (6006) :67-73
[6]  
PENROSE LS, 1955, LANCET, V2, P312
[7]   ENDOCHONDRAL OSSIFICATION IN ACHONDROPLASTIC DWARFISM [J].
RIMOIN, DL ;
HUGHES, GN ;
KAUFMAN, RL ;
ROSENTHAL, RE ;
MCALISTER, WH ;
SILBERBERG, R .
NEW ENGLAND JOURNAL OF MEDICINE, 1970, 283 (14) :728-+
[8]   NORMAL SOMATOMEDIN AND SOMATOMEDIN RECEPTORS IN ACHONDROPLASTIC DWARFISM [J].
ROSENFELD, RG ;
HINTZ, RL .
HORMONE AND METABOLIC RESEARCH, 1980, 12 (02) :76-79
[9]  
SOLOMON E, 1984, CYTOGENET CELL GENET, V37, P588
[10]  
STANESCU V, 1975, ANN GENET PARIS, V19, P119