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
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
  • [31] A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa
    Mellerio, JE
    Salas-alanis, JC
    Amaya-Guerra, M
    Tamez, E
    Ashton, GHS
    Mohammedi, R
    Eady, RAJ
    McGrath, JA
    EXPERIMENTAL DERMATOLOGY, 1999, 8 (01) : 22 - 29
  • [32] A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib
    Lai, Shuqin
    Lin, Chunli
    Guo, Zimeng
    Lai, Yun
    Xie, Ling
    Wan, Chunlei
    Yang, Tao
    Li, Longnian
    CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY, 2025, 18 : 183 - 190
  • [33] The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa
    Mu, Y. -Z.
    Du, Z. -C.
    Zhang, Z. -Z.
    Yang, H.
    Chen, X.
    Wang, Y. -B.
    Liu, L. -L.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018, 32 (10) : E372 - E373
  • [34] Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa
    Jeon, In Kyung
    Kim, Song-Ee
    Kim, Soo-Chan
    JOURNAL OF DERMATOLOGY, 2014, 41 (04): : 350 - 351
  • [35] An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred
    Yang, Catherine S.
    Lu, Yin
    Farhi, Anita
    Nelson-Williams, Carol
    Kashgarian, Michael
    Glusac, Earl J.
    Lifton, Richard P.
    Antaya, Richard J.
    Choate, Keith A.
    PEDIATRIC DERMATOLOGY, 2012, 29 (06) : 725 - 731
  • [36] A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Hohenvieh Cattle
    Menoud, Annie
    Welle, Monika
    Tetens, Jens
    Lichtner, Peter
    Droegemueller, Cord
    PLOS ONE, 2012, 7 (06):
  • [37] COL7A1 mutation spectrum in Polish Dystrophic Epidermolysis Bullosa patients.
    Wertheim-Tysarowska, Katarzyna
    Klausegger, A.
    Sobczynska-Tomaszewska, Agnieszka
    Kowalewski, Cezary
    Wozniak, Katrzyna
    Kutkowska-Kazmierczak, Anna
    Bal, Jerzy
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 : S81 - S81
  • [38] Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa
    Venti, Valeria
    Scalia, Bruna
    Sauna, Alessandra
    Nasca, Maria Rita
    Smilari, Pierluigi
    Pratico, Andrea D.
    Fiumara, Agata
    Pappalardo, Xena G.
    Pavone, Piero
    MOLECULAR SYNDROMOLOGY, 2020, 10 (06) : 332 - 338
  • [39] A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa
    Zhang, XJ
    Song, YX
    Zhang, XQ
    Yang, S
    Li, M
    Li, CR
    Yang, CJ
    Yang, J
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2003, 28 (04) : 437 - 439
  • [40] Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa
    Chao, Sheau-Chiou
    Lee, Julia Yu-Yun
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2007, 106 (01) : 86 - 91