A NOVEL 3-NUCLEOTIDE DELETION IN THE HELIX 2B REGION OF KERATIN-14 IN EPIDERMOLYSIS-BULLOSA SIMPLEX - DELTA-E375

被引：52

作者：

CHEN, MA

BONIFAS, JM

MATSUMURA, K

BLUMENFELD, A

EPSTEIN, EH

机构：

[1] UNIV CALIF SAN FRANCISCO, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

[2] MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET UNIT, BOSTON, MA 02129 USA

[3] HARVARD UNIV, SCH MED, BOSTON, MA 02129 USA

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 11期

关键词：

D O I：

10.1093/hmg/2.11.1971

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1971 / 1972

页数：2

共 17 条

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[5] LINKAGE OF EPIDERMOLYTIC HYPERKERATOSIS TO THE TYPE-II KERATIN GENE-CLUSTER ON CHROMOSOME-12Q
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[6] POINT MUTATIONS IN HUMAN KERATIN-14 GENES OF EPIDERMOLYSIS-BULLOSA SIMPLEX PATIENTS - GENETIC AND FUNCTIONAL ANALYSES
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[8] TRANSGENIC MICE EXPRESSING A MUTANT KERATIN-10 GENE REVEAL THE LIKELY GENETIC-BASIS FOR EPIDERMOLYTIC HYPERKERATOSIS
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[9] A MISSENSE MUTATION IN THE ROD DOMAIN OF KERATIN-14 ASSOCIATED WITH RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX
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[10] HOYHEIM B, 1992, J INVEST DERMATOL, V98, P397

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