EHLERS-DANLOS SYNDROME

被引:18
作者
POPE, FM [1 ]
机构
[1] NORTHWICK PK HOSP & CLIN RES CTR,HARROW HA1 3UJ,MIDDX,ENGLAND
来源
BAILLIERES CLINICAL RHEUMATOLOGY | 1991年 / 5卷 / 02期
关键词
D O I
10.1016/S0950-3579(05)80286-9
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:321 / 349
页数:29
相关论文
共 70 条
[61]  
TROMP G, 1989, J BIOL CHEM, V264, P19313
[62]  
Tschernogobow A, 1892, MONATSHEFTE PRAKTISC, V14, P76
[63]  
VASAN, 1990, AM J HUM GENET, V48, P305
[64]  
Weber FP, 1938, LANCET, V1, P198
[65]  
WEIL D, 1990, J BIOL CHEM, V265, P16007
[66]  
WEIL D, 1989, J BIOL CHEM, V264, P16804
[67]   A BASE SUBSTITUTION IN THE EXON OF A COLLAGEN GENE CAUSES ALTERNATIVE SPLICING AND GENERATES A STRUCTURALLY ABNORMAL POLYPEPTIDE IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-VII [J].
WEIL, D ;
DALESSIO, M ;
RAMIREZ, F ;
DEWET, W ;
COLE, WG ;
CHAN, D ;
BATEMAN, JF .
EMBO JOURNAL, 1989, 8 (06) :1705-1710
[68]   EHLERS-DANLOS SYNDROME TYPE-VI - CLINICAL MANIFESTATIONS OF COLLAGEN LYSYL HYDROXYLASE DEFICIENCY [J].
WENSTRUP, RJ ;
MURAD, S ;
PINNELL, SR .
JOURNAL OF PEDIATRICS, 1989, 115 (03) :405-409
[69]  
WESLEY JR, 1980, SURGERY, V39, P319
[70]  
WIENER K, 1924, ARCH DERMATOL SYPHIL, V148, P599