TYPE-III COLLAGEN MUTATIONS IN EHLERS DANLOS-SYNDROME TYPE-IV AND OTHER RELATED DISORDERS

被引：41
|
作者：
POPE, FM
NICHOLLS, AC
NARCISI, P
TEMPLE, A
CHIA, Y
FRYER, P
DEPAEPE, A
DEGROOTE, WP
MCEWAN, JR
COMPSTON, DA
OORTHUYS, H
DAVIES, J
DINWOODIE, DL
机构：
[1] DIENST MED GENET, GHENT, BELGIUM
[2] FREE UNIV AMSTERDAM, ACAD ZIEKENHUIS, 1007 MC AMSTERDAM, NETHERLANDS
[3] HAMMERSMITH HOSP, ROYAL POSTGRAD MED SCH, LONDON W12 0HS, ENGLAND
[4] UNIV HOSP WALES, CARDIFF, WALES
[5] UNIV AMSTERDAM, ACAD MED CTR, 1105 AZ AMSTERDAM, NETHERLANDS
[6] WESTERN GEN HOSP, DEPT GENET, EDINBURGH EH4 2XU, MIDLOTHIAN, SCOTLAND
[7] MARY IMOGENE BASSETT HOSP, COOPERSTOWN, NY 13326 USA
来源：
CLINICAL AND EXPERIMENTAL DERMATOLOGY | 1988年 / 13卷 / 05期
关键词：
D O I：
10.1111/j.1365-2230.1988.tb00709.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：285 / 302
页数：18
相关论文
共 50 条
  • [1] TYPE-III COLLAGEN MUTATIONS IN INDIVIDUALS WITH EHLERS-DANLOS SYNDROME TYPE-IV
    WITZ, AM
    BYERS, PH
    CHU, J
    CLINICAL RESEARCH, 1994, 42 (01): : A48 - A48
  • [2] PATIENTS WITH EHLERS-DANLOS SYNDROME TYPE-IV LACK TYPE-III COLLAGEN
    POPE, FM
    MARTIN, GR
    LICHTENSTEIN, JR
    PENTTINEN, R
    GERSON, B
    ROWE, DW
    MCKUSICK, VA
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (04) : 1314 - 1316
  • [3] CLINICAL PRESENTATIONS OF EHLERS DANLOS-SYNDROME TYPE-IV
    POPE, FM
    NARCISI, P
    NICHOLLS, AC
    LIBERMAN, M
    OORTHUYS, JWE
    ARCHIVES OF DISEASE IN CHILDHOOD, 1988, 63 (09) : 1016 - 1025
  • [4] TYPE-III COLLAGEN-METABOLISM IN EHLERS-DANLOS SYNDROME, TYPE-IV (EDS)
    AUMAILLEY, M
    IHME, A
    WEBER, L
    MULLER, PK
    TIMPL, R
    RESCH, H
    KRIEG, T
    MEDIZINISCHE WELT, 1981, 32 (17): : 676 - 676
  • [5] 2 CASES OF TYPE-IV EHLERS DANLOS-SYNDROME
    LANZI, G
    DYNE, KM
    BERARDINELLI, A
    BESANA, D
    BONORA, G
    OTTOLINI, A
    CETTA, G
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1992, 18 (01): : 89 - 93
  • [6] A STRUCTURAL DEFECT OF TYPE-III COLLAGEN CAUSING EHLERS-DANLOS SYNDROME TYPE-IV
    SUPERTIFURGA, A
    ROYCE, PM
    GUGLER, E
    GITZELMANN, R
    STEINMANN, B
    PEDIATRIC RESEARCH, 1986, 20 (10) : 1043 - 1043
  • [7] DECREASED PRODUCTION OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS DANLOS-SYNDROME TYPE-IV - INTRACELLULAR DEGRADATION OF AN ABNORMAL PROTEIN
    ANDERSON, D
    THAKKERVARIA, S
    VANDERREST, M
    STOLLE, CA
    CLINICAL RESEARCH, 1989, 37 (03): : A850 - A850
  • [8] ALTERATION IN TYPE-III COLLAGEN-METABOLISM IN PATIENTS WITH EHLERS-DANLOS SYNDROME TYPE-IV
    AUMAILLEY, M
    IHME, A
    WEBER, L
    MULLER, PK
    TIMPL, R
    RESCH, H
    KRIEG, T
    ARCHIVES OF DERMATOLOGICAL RESEARCH, 1981, 270 (02) : 238 - 238
  • [9] REDUCED STRENGTH OF SKIN IN EHLERS DANLOS-SYNDROME, TYPE-III
    KALUND, S
    HOGSA, B
    GREVY, C
    OXLUND, H
    SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, 1990, 19 (01) : 67 - 70
  • [10] MOLECULAR DEFECTS OF TYPE-III PROCOLLAGEN IN EHLERS-DANLOS SYNDROME TYPE-IV
    SUPERTIFURGA, A
    STEINMANN, B
    RAMIREZ, F
    BYERS, PH
    HUMAN GENETICS, 1989, 82 (02) : 104 - 108
12345