The spectrum of COL7A1 mutations identified in 63 families with dystrophic epidermolysis bullosa by comparative Sanger and next generation sequencing

被引：0

作者：

Vahidnezhad, H. ^{[1
,2
,3
]}

Youssefian, L. ^{[2
,3
]}

Zeinali, S. ^{[1
]}

Barzegar, M. R. ^{[4
]}

Sotoudeh, S. ^{[2
]}

Ertel, A. ^{[3
]}

Li, Q. ^{[3
]}

Mozaffari, N. ^{[4
]}

Fortina, P. ^{[3
]}

Uitto, J. ^{[3
]}

机构：

[1] Pasteur Inst Iran, Tehran, Iran

[2] Univ Tehran Med Sci, Tehran, Iran

[3] Thomas Jefferson Univ, Philadelphia, PA 19107 USA

[4] Shahid Beheshti Univ Med Sci, Tehran, Iran

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2015年 / 135卷

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：

466

引用

页码：S80 / S80

页数：1

共 50 条

[21] Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa
Cui, Li-min
Jiang, Jian-ye
Hu, Ning-ning
Zou, Hong-en
Zhao, Bao-zhen
Han, Cong-ying
Yang, Kai
Wang, Yi-peng
Xing, Huan-xia
MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (05):
[22] A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa
Christiano, AM
DAlessio, M
Paradisi, M
Angelo, C
Mazzanti, C
Puddu, P
Uitto, J
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 679 - 684
[23] Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations
Von Bartenwerffer, Wibke
Has, Cristina
Arin, Meral J.
Tantcheva-Poor, Iliana
Kreuter, Alexander
Kremer, Kim
Arshah, Tarek
Hoffmann, Michael
Eming, Sabine A.
Kohlhase, Juergen
Krieg, Thomas
Bruckner-Tuderman, Leena
Hartmann, Karin
EUROPEAN JOURNAL OF DERMATOLOGY, 2011, 21 (02) : 170 - 172
[24] Clustering of COL7A1 mutations in exon 73:: Implications for mutation analysis in dystrophic epidermolysis bullosa
Mecklenbeck, S
Hammami-Hauasli, N
Höpfner, B
Schumann, H
Kramer, A
Küster, W
Bruckner-Tuderman, L
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (03) : 398 - 400
[25] Diagnostic challenge of compound heterozygosity for dominant and recessive COL7A1 mutations in dystrophic epidermolysis bullosa
Duchatelet, S.
Pironon, N.
Miskinyte, S.
Titeux, M.
Bourrat, E.
Hovnanian, A.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (10) : S233 - S233
[26] Optimising specificity and applicability of base editing for COL7A1 mutations in recessive dystrophic epidermolysis bullosa
Brooks, I.
Zebrowska, P.
Laczmanski, L.
McGrath, J. A.
Jackow, J.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2022, 142 (12) : S229 - S229
[27] Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa
Hong, Sung-Ah
Kim, Song-Ee
Lee, A-Young
Hwang, Gue-Ho
Kim, Jong Hoon
Iwata, Hiroaki
Kim, Soo-Chan
Bae, Sangsu
Lee, Sang Eun
MOLECULAR THERAPY, 2022, 30 (08) : 2664 - 2679
[28] Marked intrafamilial variability in dystrophic epidermolysis bullosa caused by dominant and recessive COL7A1 mutations
Turczynski, S.
Titeux, M.
Pironon, N.
Murrell, D. F.
Hovnanian, A.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 : S59 - S59
[29] Implications of the position of glycine substitution mutations in COL7A1 in determining dystrophic epidermolysis bullosa phenotype
Mellerio, J
Ashton, G
Mohammedi, R
Whittock, N
Dunnill, M
Eady, R
McGrath, J
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (04) : 592 - 592
[30] Molecular basis of dystrophic epidermolysis bullosa: Mutations is the type VII collagen gene (COL7A1)
Jarvikallio, A
Pulkkinen, L
Uitto, J
HUMAN MUTATION, 1997, 10 (05) : 338 - 347

← 1 2 3 4 5 →