FABRY DISEASE - MOLECULAR DIAGNOSIS OF HEMIZYGOTES AND HETEROZYGOTES

被引:36
作者
DESNICK, RJ
BERNSTEIN, HS
ASTRIN, KH
BISHOP, DF
机构
关键词
D O I
10.1159/000469190
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
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页码:54 / 64
页数:11
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共 70 条
[1]   STRUCTURE OF ADENOSINE-DEAMINASE MESSENGER-RNAS FROM NORMAL AND ADENOSINE DEAMINASE-DEFICIENT HUMAN CELL-LINES [J].
ADRIAN, GS ;
WIGINTON, DA ;
HUTTON, JJ .
MOLECULAR AND CELLULAR BIOLOGY, 1984, 4 (09) :1712-1717
[2]  
Anderson W., 1898, BRIT J DERMATOL, V10, P113, DOI DOI 10.1111/J.1365-2133.1898.TB16317.X
[3]  
AVILA JL, 1973, BRIT J DERMATOL, V89, P149
[4]  
BACH G, 1982, CLIN GENET, V21, P59
[5]   RESTRICTION SITES CONTAINING CPG SHOW A HIGHER FREQUENCY OF POLYMORPHISM IN HUMAN DNA [J].
BARKER, D ;
SCHAFER, M ;
WHITE, R .
CELL, 1984, 36 (01) :131-138
[6]  
BEAUDET AL, 1978, CLIN GENET, V13, P251
[7]   ARE U4 SMALL NUCLEAR RIBONUCLEOPROTEINS INVOLVED IN POLYADENYLATION [J].
BERGET, SM .
NATURE, 1984, 309 (5964) :179-182
[8]  
BERNSTEIN H S, 1986, American Journal of Human Genetics, V39, pA188
[9]  
BERNSTEIN HS, 1987, IN PRESS J CLIN INVE
[10]  
BEUTLER E, 1973, NEW ENGL J MED, V289, P694