PREVALENCE OF THE 281 (GLY-]GLU) MUTATION IN HEPATOERYTHROPOIETIC PORPHYRIA AND PORPHYRIA CUTANEA-TARDA

被引:32
作者
DEVERNEUIL, H
HANSEN, J
PICAT, C
GRANDCHAMP, B
KUSHNER, J
ROBERTS, A
ELDER, G
NORDMANN, Y
机构
[1] HOP BEAUJON,INSERM,U160,F-92110 CLICHY,FRANCE
[2] UNIV WALES COLL MED,DEPT MED BIOCHEM,CARDIFF CF4 4XN,S GLAM,WALES
[3] FAC MED XAVIER BICHAT,GENET MOLEC LAB,F-92700 COLOMBES,FRANCE
[4] MED CTR,DIV HEMATOL,SALT LAKE CITY,UT 84132
[5] HOP LOUIS MOURIER,F-92700 COLOMBES,FRANCE
关键词
D O I
10.1007/BF00291248
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:101 / 102
页数:2
相关论文
共 10 条
[1]  
AGUADE JP, 1975, ANN DERMATOL SYPHIL, V102, P129
[2]  
DEVERNEUIL H, 1984, AM J HUM GENET, V36, P613
[3]   UROPORPHYRINOGEN DECARBOXYLASE STRUCTURAL MUTANT (GLY281-]GLU) IN A CASE OF PORPHYRIA [J].
DEVERNEUIL, H ;
GRANDCHAMP, B ;
BEAUMONT, C ;
PICAT, C ;
NORDMANN, Y .
SCIENCE, 1986, 234 (4777) :732-734
[4]  
DEVERNEUIL H, 1986, PORPHYRINS PORPHYRIN, P201
[5]  
ELDER GH, 1983, LANCET, V1, P1301
[6]  
ELDER GH, 1981, LANCET, V1, P916
[7]  
KAPPAS A, 1983, METABOLIC BASIS INHE, P1301
[8]   PRENATAL-DIAGNOSIS OF ALPHA-1-ANTITRYPSIN DEFICIENCY BY DIRECT ANALYSIS OF THE MUTATION SITE IN THE GENE [J].
KIDD, VJ ;
GOLBUS, MS ;
WALLACE, RB ;
ITAKURA, K ;
WOO, SLC .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (10) :639-642
[9]  
LAZARO P, 1984, BRIT J DERMATOL, V110, P613
[10]  
SASSA S, 1984, T ASSOC AM PHYSICIAN, V36, P65