A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

被引：5

作者：

Sawamura, D

Niizeki, H

Miyagawa, S

Shinkuma, S

Shimizu, H

机构：

[1] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Nara Med Univ, Sch Med, Dept Dermatol, Kashihara, Nara 634, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 154卷 / 05期

关键词：

COL7A1; epidermolysis bullosa pruriginosa; pruritus; type VII collagen;

D O I：

10.1111/j.1365-2133.2006.07148.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：995 / 997

页数：3

共 11 条

[1] Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: A splice site mutation in the type VII collagen gene [J].

Christiano, AM ;

Fine, JD ;

Uitto, J .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (06) :811-814

[2]

Christiano AM, 1997, HUM MUTAT, V10, P408, DOI 10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO

[3]

2-3

[4] Nomenclature for the description of human sequence variations [J].

den Dunnen, JT ;

Antonarakis, E .

HUMAN GENETICS, 2001, 109 (01) :121-124

[5] Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa [J].

Fine, JD ;

Eady, RAJ ;

Bauer, EA ;

Briggaman, RA ;

Bruckner-Tuderman, L ;

Christiano, A ;

Heagerty, A ;

Hintner, H ;

Jonkman, MF ;

McGrath, J ;

McGuire, J ;

Moshell, A ;

Shimizu, H ;

Tadini, G ;

Uitto, J .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2000, 42 (06) :1051-1066

[6] A novel splice site mutation in collagen type VII gene in a chinese family with dominant dystrophic epidermolysis bullosa pruriginosa [J].

Jiang, W ;

Bu, DF ;

Yang, Y ;

Zhu, XJ .

ACTA DERMATO-VENEREOLOGICA, 2002, 82 (03) :187-191

[7] Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa [J].

Kon, A ;

Pulkkinen, L ;

Ishida-Yamamoto, A ;

Hashimoto, I ;

Uitto, J .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (03) :534-537

[8] EPIDERMOLYSIS-BULLOSA PRURIGINOSA - DYSTROPHIC EPIDERMOLYSIS-BULLOSA WITH DISTINCTIVE CLINICOPATHOLOGICAL FEATURES [J].

MCGRATH, JA ;

SCHOFIELD, OMV ;

EADY, RAJ .

BRITISH JOURNAL OF DERMATOLOGY, 1994, 130 (05) :617-625

[9] Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa [J].

Mellerio, JE ;

Ashton, GHS ;

Mohammedi, R ;

Lyon, CC ;

Kirby, B ;

Harman, KE ;

Salas-Alanis, JC ;

Atherton, DJ ;

Harrison, PV ;

Griffiths, WAD ;

Black, MM ;

Eady, RAJ ;

McGrath, JA .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (06) :984-987

[10] Mutation analysis and molecular genetics of epidermolysis bullosa [J].

Pulkkinen, L ;

Uitto, J .

MATRIX BIOLOGY, 1999, 18 (01) :29-42

← 1 2 →