EVIDENCE AGAINST KERATIN GENE-MUTATIONS IN A FAMILY WITH ICHTHYOSIS HYSTRIX CURTH-MACKLIN

被引：20

作者：

BONIFAS, JM

BARE, JW

CHEN, MA

RANKI, A

NEIMI, KM

EPSTEIN, EH

机构：

[1] UNIV CALIF SAN FRANCISCO,SCH MED,DEPT DERMATOL,SAN FRANCISCO,CA 94143

[2] HELSINKI UNIV,CENT HOSP,HELSINKI,FINLAND

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1993年 / 101卷 / 06期

关键词：

LINKAGE ANALYSIS; EPIDERMAL DISEASE; GENODERMATOSES; EPIDERMOLYTIC HYPERKERATOSIS;

D O I：

10.1111/1523-1747.ep12371714

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and ultrastructurally by disruption of the keratin intermediate filament network of suprabasal keratinocytes. We have used linkage analysis to test whether a keratin gene mutation might underlie this disease. This analysis excluded the keratin gene loci as the sites for the disease-causing mutation in one affected kindred.

引用

页码：890 / 891

页数：2

共 28 条

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