Third report of a COL3A1 exon 24 skipping mutation associated with Ehlers Danlos Syndrome type IV

被引：0
|
作者：
White, L [1 ]
Hills, N [1 ]
Tysoe, C [1 ]
Pope, M [1 ]
机构：
[1] Inst Med Genet, Cardiff, S Glam, Wales
来源：
JOURNAL OF MEDICAL GENETICS | 1999年 / 36卷
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：S98 / S98
页数：1
相关论文
共 50 条
  • [1] A new COL3A1 mutation in Ehlers-Danlos syndrome type IV
    Eder, Johanna
    Laccone, Franco
    Rohrbach, Marianne
    Giunta, Cecilia
    Aumayr, Klaus
    Reichel, Christofer
    Trautinger, Franz
    EXPERIMENTAL DERMATOLOGY, 2013, 22 (03) : 231 - 234
  • [2] Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation
    Deng, Yao
    Wei, Shijie
    Hu, Shijun
    Chen, Jinlan
    Tan, Zhiping
    Yang, Yifeng
    MOLECULAR MEDICINE REPORTS, 2015, 12 (01) : 1119 - 1124
  • [3] EHLERS-DANLOS-SYNDROME TYPE-IV - A SINGLE-BASE SUBSTITUTION OF THE LAST NUCLEOTIDE OF EXON-34 IN COL3A1 LEADS TO EXON SKIPPING
    KUIVANIEMI, H
    TROMP, G
    BERGFELD, WF
    KAY, M
    HELM, TN
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 105 (03) : 352 - 356
  • [4] Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene
    Jansen, T
    De Paepe, A
    Nuytinck, L
    Altmeyer, P
    BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (05) : 1086 - 1087
  • [5] A 357 basepair deletion in intron 44 of the COL3A1 gene causes skipping of exon 45 in a patient with Ehlers-Danlos Syndrome type IV (EDS IV).
    Giunta, C
    Steinmann, B
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A172 - A172
  • [6] Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?
    Utama, Sasiwimon
    Cale, Jessica M.
    Mitrpant, Chalermchai
    Fletcher, Sue
    Wilton, Steve D.
    Aung-Htut, May T.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (16)
  • [7] Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1
    Wendorff, Heiko
    Pelisek, Jaroslav
    Zimmermann, Alexander
    Mayer, Karin
    Seidel, Heide
    Weirich, Gregor
    Hausser, Ingrid
    Siegel, Corinna
    Zernecke, Alma
    Eckstein, Hans-Henning
    CARDIOVASCULAR PATHOLOGY, 2013, 22 (06) : 488 - 492
  • [8] Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database
    Shido, Kosuke
    Kojima, Kaname
    Yoshida-Akai, Saaya
    Kikuchi, Katsuko
    Hatamochi, Atsushi
    Aiba, Setsuya
    Yamasaki, Kenshi
    JOURNAL OF DERMATOLOGY, 2021, 48 (12): : 1918 - 1922
  • [9] An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
    Nicholls, AC
    Oliver, JE
    McCarron, S
    Harrison, JB
    Greenspan, DS
    Pope, FM
    JOURNAL OF MEDICAL GENETICS, 1996, 33 (11) : 940 - 946
  • [10] Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene
    Sadakata, Rinako
    Hatamochi, Atsushi
    Kodama, Keiji
    Kaga, Akiko
    Yamaguchi, Takefumi
    Soma, Tomoyuki
    Usui, Yutaka
    Nagata, Makoto
    Ohtake, Akira
    Hagiwara, Koichi
    Kanazawa, Minoru
    INTERNAL MEDICINE, 2010, 49 (16) : 1797 - 1800
12345