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

[11] COMPLETE NUCLEOTIDE-SEQUENCE OF 2 STEROID 21-HYDROXYLASE GENES TANDEMLY ARRANGED IN HUMAN-CHROMOSOME - A PSEUDOGENE AND A GENUINE GENE [J].

HIGASHI, Y ;

YOSHIOKA, H ;

YAMANE, M ;

GOTOH, O ;

FUJIIKURIYAMA, Y .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (09) :2841-2845

[12] PREVALENCE OF POLYMORPHIC 21-HYDROXYLASE GENE (CA21HB) MUTATIONS IN SALT-LOSING CONGENITAL ADRENAL-HYPERPLASIA [J].

JOSPE, N ;

DONOHOUE, PA ;

VANDOP, C ;

MCLEAN, RH ;

BIAS, WB ;

MIGEON, CJ .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1987, 142 (03) :798-804

[13]

KOMINAMI S, 1980, J BIOL CHEM, V255, P3386

[14] P450XXI (STEROID 21-HYDROXYLASE) GENE DELETIONS ARE NOT FOUND IN FAMILY STUDIES OF CONGENITAL ADRENAL-HYPERPLASIA [J].

MATTESON, KJ ;

PHILLIPS, JA ;

MILLER, WL ;

CHUNG, BC ;

ORLANDO, PJ ;

FRISCH, H ;

FERRANDEZ, A ;

BURR, IM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (16) :5858-5862

[15] EXPRESSION OF MURINE 21-HYDROXYLASE IN MOUSE ADRENAL-GLANDS AND IN TRANSFECTED Y1 ADRENOCORTICAL TUMOR-CELLS [J].

PARKER, KL ;

CHAPLIN, DD ;

WONG, M ;

SEIDMAN, JG ;

SMITH, JA ;

SCHIMMER, BP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (23) :7860-7864

[16] C4B-GENE POLYMORPHISM DETECTED IN A HUMAN COSMID CLONE [J].

PRENTICE, HL ;

SCHNEIDER, PM ;

STROMINGER, JL .

IMMUNOGENETICS, 1986, 23 (04) :274-276

[17] MOLECULAR CHARACTERIZATION OF THE HLA-LINKED STEROID 21-HYDROXYLASE B-GENE FROM AN INDIVIDUAL WITH CONGENITAL ADRENAL-HYPERPLASIA [J].

RODRIGUES, NR ;

DUNHAM, I ;

YU, CY ;

CARROLL, MC ;

PORTER, RR ;

CAMPBELL, RD .

EMBO JOURNAL, 1987, 6 (06) :1653-1661

[18]

RUMBSY G, 1986, J MED GENET, V23, P204

[19] STRUCTURE OF CHI HOTSPOTS OF GENERALIZED RECOMBINATION [J].

SMITH, GR ;

KUNES, SM ;

SCHULTZ, DW ;

TAYLOR, A ;

TRIMAN, KL .

CELL, 1981, 24 (02) :429-436

[20] MOLECULAR GENETIC-ANALYSIS OF NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY ASSOCIATED WITH HLA-B14,DR1 [J].

SPEISER, PW ;

NEW, MI ;

WHITE, PC .

NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (01) :19-23

← 1 2 3 →