Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa

被引：22

作者：

Sato-Matsumura, KC ^{[1
]}

Yasukawa, K ^{[1
]}

机构：

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

来源：

ARCHIVES OF DERMATOLOGY | 2002年 / 138卷 / 02期

关键词：

D O I：

10.1001/archderm.138.2.269

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：269 / 271

页数：3

共 5 条

[1]

Christiano AM, 1996, AM J HUM GENET, V58, P671

[2] PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 3 BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA [J].

CHRISTIANO, AM ;

SUGA, Y ;

GREENSPAN, DS ;

OGAWA, H ;

UITTO, J .

JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (03) :1328-1334

[3] PREMATURE TERMINATION CODONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE, MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA [J].

CHRISTIANO, AM ;

ANHALT, G ;

GIBBONS, S ;

BAUER, EA ;

UITTO, J .

GENOMICS, 1994, 21 (01) :160-168

[4] Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations [J].

Hammami-Hauasli, N ;

Raghunath, M ;

Küster, W ;

Bruckner-Tuderman, L .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (06) :1214-1219

[5] Compound heterozygosity for silent and dominant Glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype [J].

Shimizu, H ;

Hammami-Hauasli, N ;

Hatta, N ;

Nishikawa, T ;

Bruckner-Tuderman, L .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 113 (03) :419-421

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