Dental alterations in junctional epidermolysis bullosa: report of a patient with a mutation in the LAMB3 gene

被引:0
|
作者
Sadler, E
Diem, A
Klausegger, A
Lanschuetzer, CM
Pohla-Gubo, G
Muss, W
Hachleitner, J
Hintner, H
Bauer, JW
机构
[1] Private Med Univ Salzburg, Dept Dermatol, Salzburg, Austria
[2] Private Med Univ Salzburg, Inst Pathol Anat, Salzburg, Austria
[3] Private Med Univ Salzburg, Dept Oral & Maxillofacial Surg, Salzburg, Austria
关键词
D O I
暂无
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:A90 / A90
页数:1
相关论文
共 50 条
  • [31] Of LAMA3 and LAMB3: A novel gene therapy for epidermolysis bullosa
    O'Connell, Patrick
    MOLECULAR THERAPY, 2024, 32 (05) : 1197 - 1198
  • [32] A homozygous translationally silent mutation in the LAMB 3 gene can cause junctional epidermolysis bullosa
    Klausegger, A
    Lanschuetzer, CM
    Buchroithner, B
    Pohla-Gubo, G
    Muss, WH
    Hintner, H
    Bauer, JW
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (04) : 949 - 949
  • [33] Predominance of a hotspot mutation, R635X, in the LAMB3 gene in patients with junctional epidermolysis
    Pulkkinen, L
    Meneguzzi, G
    McGrath, J
    Kivirikko, S
    Ortonne, JP
    Christiano, AM
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 144 - 144
  • [34] Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa
    Pulkkinen, L
    Bullrich, F
    Czarnecki, P
    Weiss, L
    Uitto, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) : 611 - 619
  • [35] Digenic junctional epidermolysis bullosa: Mutations in COL17A1 and LAMB3 genes
    Floeth, M
    Bruckner-Tuderman, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) : 1530 - 1537
  • [36] Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
    Pulkkinen, L
    Meneguzzi, G
    McGrath, JA
    Xu, Y
    BlanchetBardon, C
    Ortonne, JP
    Christiano, AM
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (02) : 232 - 237
  • [37] A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse
    Johanna Hammersen
    Jin Hou
    Stephanie Wünsche
    Sven Brenner
    Thomas Winkler
    Holm Schneider
    Molecular and Cellular Pediatrics, 1 (Suppl 1)
  • [38] CLONING OF THE BETA-3 CHAIN GENE (LAMB3) OF HUMAN LAMININ-5, A CANDIDATE GENE IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA
    PULKKINEN, L
    GERECKE, DR
    CHRISTIANO, AM
    WAGMAN, DW
    BURGESON, RE
    UITTO, J
    GENOMICS, 1995, 25 (01) : 192 - 198
  • [39] Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa
    Takizawa, Y
    Pulkkinen, L
    Shimizu, H
    Lin, L
    Hagiwara, S
    Nishikawa, T
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (05) : 828 - 831
  • [40] Efficient CRISPR/Cas9-Mediated iIn Situ Correction of LAMB3 Gene in Keratinocytes Derived from Junctional Epidermolysis Bullosa Patient
    Benati, Daniela
    Miselli, Francesca
    Cocchiarella, Fabienne
    Patrizi, Clarissa
    Latella, Maria Carmela
    Baldassarri, Samantha
    Pedrazzoli, Eleonora
    Ammendola, Virginia
    Larcher, Fernando
    Recchia, Alessandra
    MOLECULAR THERAPY, 2018, 26 (05) : 90 - 90