ANALYSIS OF MUTATIONS CAUSING STEROID 21-HYDROXYLASE DEFICIENCY

被引：21

作者：

WHITE, PC

机构：

来源：

ENDOCRINE RESEARCH | 1989年 / 15卷 / 1-2期

关键词：

D O I：

10.1080/07435808909039099

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：239 / 256

页数：18

共 29 条

[1] MUTATION IN THE CYP21B GENE (ILE-172-]ASN) CAUSES STEROID 21-HYDROXYLASE DEFICIENCY [J].

AMOR, M ;

PARKER, KL ;

GLOBERMAN, H ;

NEW, MI ;

WHITE, PC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (05) :1600-1604

[2] EXPRESSION OF P1-450 AND P3-450 DNA CODING SEQUENCES AS ENZYMATICALLY ACTIVE CYTOCHROMES-P-450 IN MAMMALIAN-CELLS [J].

BATTULA, N ;

SAGARA, J ;

GELBOIN, HV .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (12) :4073-4077

[3] MAPPING OF STEROID 21-HYDROXYLASE GENES ADJACENT TO COMPLEMENT COMPONENT C-4 GENES IN HLA, THE MAJOR HISTOCOMPATIBILITY COMPLEX IN MAN [J].

CARROLL, MC ;

CAMPBELL, RD ;

PORTER, RR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (02) :521-525

[4] A MOLECULAR MAP OF THE HUMAN MAJOR HISTOCOMPATIBILITY COMPLEX CLASS-III REGION LINKING COMPLEMENT GENES-C4, GENE-C2 AND FACTOR-B [J].

CARROLL, MC ;

CAMPBELL, RD ;

BENTLEY, DR ;

PORTER, RR .

NATURE, 1984, 307 (5948) :237-241

[5] BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN [J].

CHANG, JC ;

WAIKAN, Y .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) :2886-2889

[6] NUCLEOTIDE-SEQUENCE ANALYSIS OF MURINE 21-HYDROXYLASE GENES - MUTATIONS AFFECTING GENE-EXPRESSION [J].

CHAPLIN, DD ;

GALBRAITH, LJ ;

SEIDMAN, JG ;

WHITE, PC ;

PARKER, KL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (24) :9601-9605

[7] CLONING OF CDNA-ENCODING STEROID 11-BETA-HYDROXYLASE (P450C11) [J].

CHUA, SC ;

SZABO, P ;

VITEK, A ;

GRZESCHIK, KH ;

JOHN, M ;

WHITE, PC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (20) :7193-7197

[8] RESTRICTION MAPS AND RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS OF THE HUMAN 21-HYDROXYLASE GENES [J].

DONOHOUE, PA ;

JOSPE, N ;

MIGEON, CJ ;

MCLEAN, RH ;

BIAS, WB ;

WHITE, PC ;

VANDOP, C .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1986, 136 (02) :722-729

[9]

DUPONT B, 1977, LANCET, V2, P1309

[10] NONSENSE MUTATION CAUSING STEROID 21-HYDROXYLASE DEFICIENCY [J].

GLOBERMAN, H ;

AMOR, M ;

PARKER, KL ;

NEW, MI ;

WHITE, PC .

JOURNAL OF CLINICAL INVESTIGATION, 1988, 82 (01) :139-144

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