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
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
收藏
页码:1971 / 1972
页数:2
相关论文
共 17 条
[1]   EPIDERMOLYSIS-BULLOSA SIMPLEX - EVIDENCE IN 2 FAMILIES FOR KERATIN GENE ABNORMALITIES [J].
BONIFAS, JM ;
ROTHMAN, AL ;
EPSTEIN, EH .
SCIENCE, 1991, 254 (5035) :1202-1205
[2]   LINKAGE OF THE EPIDERMOLYTIC HYPERKERATOSIS PHENOTYPE AND THE REGION OF THE TYPE-II KERATIN GENE-CLUSTER ON CHROMOSOME-12 [J].
BONIFAS, JM ;
BARE, JW ;
CHEN, MA ;
LEE, MK ;
SLATER, CA ;
GOLDSMITH, LA ;
EPSTEIN, EH .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1992, 99 (05) :524-527
[3]   THE GENETIC-BASIS OF EPIDERMOLYTIC HYPERKERATOSIS - A DISORDER OF DIFFERENTIATION-SPECIFIC EPIDERMAL KERATIN GENES [J].
CHENG, J ;
SYDER, AJ ;
YU, QC ;
LETAI, A ;
PALLER, AS ;
FUCHS, E .
CELL, 1992, 70 (05) :811-819
[4]   A LEUCINE-]PROLINE MUTATION IN THE H1 SUBDOMAIN OF KERATIN-1 CAUSES EPIDERMOLYTIC HYPERKERATOSIS [J].
CHIPEV, CC ;
KORGE, BP ;
MARKOVA, N ;
BALE, SJ ;
DIGIOVANNA, JJ ;
COMPTON, JG ;
STEINERT, PM .
CELL, 1992, 70 (05) :821-828
[5]   LINKAGE OF EPIDERMOLYTIC HYPERKERATOSIS TO THE TYPE-II KERATIN GENE-CLUSTER ON CHROMOSOME-12Q [J].
COMPTON, JG ;
DIGIOVANNA, JJ ;
SANTUCCI, SK ;
KEARNS, KS ;
AMOS, CI ;
ABANGAN, DL ;
KORGE, BP ;
MCBRIDE, OW ;
STEINERT, PM ;
BALE, SJ .
NATURE GENETICS, 1992, 1 (04) :301-305
[6]   POINT MUTATIONS IN HUMAN KERATIN-14 GENES OF EPIDERMOLYSIS-BULLOSA SIMPLEX PATIENTS - GENETIC AND FUNCTIONAL ANALYSES [J].
COULOMBE, PA ;
HUTTON, ME ;
LETAI, A ;
HEBERT, A ;
PALLER, AS ;
FUCHS, E .
CELL, 1991, 66 (06) :1301-1311
[7]   MOLECULAR-GENETICS OF EPIDERMOLYSIS-BULLOSA [J].
EPSTEIN, EH .
SCIENCE, 1992, 256 (5058) :799-804
[8]   TRANSGENIC MICE EXPRESSING A MUTANT KERATIN-10 GENE REVEAL THE LIKELY GENETIC-BASIS FOR EPIDERMOLYTIC HYPERKERATOSIS [J].
FUCHS, E ;
ESTEVES, RA ;
COULOMBE, PA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (15) :6906-6910
[9]   A MISSENSE MUTATION IN THE ROD DOMAIN OF KERATIN-14 ASSOCIATED WITH RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX [J].
HOVNANIAN, A ;
POLLACK, E ;
HILAL, L ;
ROCHAT, A ;
PROST, C ;
BARRANDON, Y ;
GOOSSENS, M .
NATURE GENETICS, 1993, 3 (04) :327-332
[10]  
HOYHEIM B, 1992, J INVEST DERMATOL, V98, P397