A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene

被引：1
|
作者：
Shimizu, Yuri [1 ]
Kotobuki, Yorihisa [1 ]
Arase, Noriko [1 ]
Arase, Hisashi [2 ,3 ]
Katayama, Ichiro [1 ]
Fujimoto, Manabu [1 ]
机构：
[1] Osaka Univ, Grad Sch Med, Dept Dermatol, Course Integrated Med, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan
[2] Osaka Univ, Res Inst Microbial Dis, Dept Immunochem, Suita, Osaka, Japan
[3] Osaka Univ, Immunol Frontier Res Ctr, Lab Immunochem, Suita, Osaka, Japan
来源：
ANNALS OF DERMATOLOGY | 2022年 / 34卷 / 01期
关键词：
PATIENT;
D O I：
10.5021/ad.2022.34.1.81
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：81 / 83
页数：3
相关论文
共 50 条
  • [1] Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa
    Schneider, Caralin
    Mervis, Joshua
    Lev-Tov, Hadar
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2023, 62 (04) : E204 - E205
  • [2] 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
  • [3] Novel mutation of COL7A1 gene in a family with epidermolysis bullosa pruriginosa
    Lee, A. D.
    Almaani, N.
    McGrath, J. A.
    Yosipovitch, G.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 : S87 - S87
  • [4] A case with recessive pretibial dystrophic epidermolysis bullosa: identification of a compound heterozygous mutation of COL7A1
    Makino, Eiichi
    Nakano, Hajimi
    Sawamura, Daisuke
    Fujimoto, Wataru
    JOURNAL OF DERMATOLOGY, 2010, 37 : 64 - 65
  • [5] Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene
    Abdou, A.
    Daoui, L.
    Charlesworth, A.
    Chiaverini, C.
    Algros, M-P
    Puzenat, E.
    Chantegret, C.
    Vabres, P.
    Lacour, J-P
    Aubin, F.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2015, 142 (05): : 346 - 349
  • [6] Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa
    Rodriguez, Fernando A.
    Jose Gana, Maria
    Joao Yubero, Maria
    Zillmann, Gisela
    Kraemer, Susanne M.
    Catalan, Javiera
    Rubio-Astudillo, Julia
    Gonzalez, Sergio
    Liu, Lu
    Ozoemena, Linda
    Mellerio, Jemima M.
    McGrath, John A.
    Palisson, Francis
    Conget, Paulette
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2012, 65 (02) : 149 - 152
  • [7] A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene
    Suzuki, S.
    Shimomura, Y.
    Yamamoto, Y.
    Kariya, N.
    Shibuya, M.
    Ito, M.
    Fujiwara, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (04) : 838 - 840
  • [8] Epidermolysis bullosa acquisita in a patient with biallelic COL7A1 mutations
    Guerra, L.
    Zambruno, G.
    Fortugno, P.
    Salemme, A.
    Didona, B.
    Di Zenzo, G.
    Castiglia, D.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (10) : S229 - S229
  • [9] Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa
    Kitazawa, Tomoko
    Kawakami, Tamihiro
    Matsuoka, Maya
    Kimura, Satoko
    Soma, Yoshinao
    Nakano, Hajime
    JOURNAL OF DERMATOLOGY, 2014, 41 (11): : 1018 - 1019
  • [10] Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations
    Jerabkova, Barbora
    Kopeckova, Lenka
    Buckova, Hana
    Vesely, Karel
    Valickova, Jana
    Fajkusova, Lenka
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2010, 59 (02) : 136 - 140
12345