Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa

被引：0
|
作者：
Schneider, Caralin [1 ]
Mervis, Joshua [1 ]
Lev-Tov, Hadar [1 ]
机构：
[1] Univ Miami, Miller Sch Med, Dr Phillip Frost Dept Dermatol & Cutaneous Surg, Miami, FL 33136 USA
来源：
INTERNATIONAL JOURNAL OF DERMATOLOGY | 2023年 / 62卷 / 04期
关键词：
D O I：
10.1111/ijd.16425
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：E204 / E205
页数：2
相关论文
共 50 条
  • [21] A novel mutation of COL7A1 in a Chinese family with dystrophic epidermolysis bullosa pruriginosa
    Tuo, H.
    Zheng, Y.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2020, 140 (07) : S31 - S31
  • [22] Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype
    Stone, William
    Strege, Chloe
    Miller, William
    Geurts, Aron M.
    Grzybowski, Michael
    Riddle, Megan
    Lees, Christopher
    Eide, Cindy
    Keene, Douglas R.
    Tufa, Sara F.
    Seelig, Davis
    Mcgrath, John
    Tolar, Jakub
    PLOS ONE, 2024, 19 (05):
  • [23] The COL7A1 gene locus specific database for epidermolysis bullosa
    Kowalewski, C.
    Wertheim-Tysarowska, K.
    Sobczynska-Tomaszewska, A.
    Wozniak, K.
    Skronski, M.
    Swieckowski, G.
    Kutkowska-Kazmierczak, A.
    Bal, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 : S145 - S145
  • [24] A case of epidermolysis bullosa pruriginosa with a COL7A1 gene mutation successfully treated with upadacitinib
    Guo, Lan
    Wang, Si-Fan
    Wang, Hai-Meng
    Zeng, Yue-Ping
    Jin, Hong-Zhong
    JOURNAL OF DERMATOLOGY, 2025, 52 (01): : e5 - e7
  • [25] Identification of a novel COL7A1 variant in dystrophic epidermolysis bullosa
    Sheriff, Tabrez
    Murrell, Dedee F.
    AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2022, 63 : 32 - 32
  • [26] Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa
    Kon, A
    Pulkkinen, L
    Ishida-Yamamoto, A
    Hashimoto, I
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (03) : 534 - 537
  • [27] Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa
    Dang, Ningning
    Murrell, Dedee F.
    EXPERIMENTAL DERMATOLOGY, 2008, 17 (07) : 553 - 568
  • [28] Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing
    Betts, CM
    Posteraro, P
    Costa, AM
    Varotti, C
    Schubert, M
    Bruckner-Tuderman, L
    Castiglia, D
    BRITISH JOURNAL OF DERMATOLOGY, 1999, 141 (05) : 833 - 839
  • [29] Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene
    Nikolova, Slavena Enkova
    Kamburova, Zornitsa Bogomilova
    Vasilev, Preslav Plamenov
    Kovacheva, Katya Stefanova
    Yordanova, Ivelina Asparuhova
    BIOMEDICAL REPORTS, 2024, 21 (05)
  • [30] A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa
    Ren, X.
    Liu, J. Y.
    Zhai, L. Y.
    Yao, Q.
    Da, X.
    Cai, Z.
    Liu, P.
    Sun, K.
    Huang, C.
    Wang, Q. K.
    Liu, M.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (03) : 618 - 620
12345