HETEROGENEITY IN THE GENE LOCUS FOR STEROID 21-HYDROXYLASE DEFICIENCY

被引：14

作者：

RUMSBY, G

FIELDER, AHL

HAGUE, WM

HONOUR, JW

机构：

[1] MIDDLESEX HOSP,COBBOLD LABS,MORTIMER ST,LONDON W1N 8AA,ENGLAND

[2] INST CHILD HLTH,DEPT CLIN BIOCHEM,LONDON WC1N 1EH,ENGLAND

[3] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT IMMUNOL,LONDON W12 0HS,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1988年 / 25卷 / 09期

关键词：

D O I：

10.1136/jmg.25.9.596

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：596 / 599

页数：4

共 16 条

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[2] DELETION OF COMPLEMENT C-4 AND STEROID 21-HYDROXYLASE GENES IN THE HLA CLASS-III REGION [J].

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[3] STRUCTURE AND ORGANIZATION OF THE C4-GENES [J].

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PORTER, RR .

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES, 1984, 306 (1129) :379-388

[4] GENE CONVERSION IN SALT-LOSING CONGENITAL ADRENAL-HYPERPLASIA WITH ABSENT COMPLEMENT C4B PROTEIN [J].

DONOHOUE, PA ;

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MCLEAN, RH ;

WHITE, PC ;

JOSPE, N ;

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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1986, 62 (05) :995-1002

[5] REARRANGEMENT OF 21-HYDROXYLASE GENES IN DISEASE-ASSOCIATED MHC SUPRATYPES [J].

GARLEPP, MJ ;

WILTON, AN ;

DAWKINS, RL ;

WHITE, PC .

IMMUNOGENETICS, 1986, 23 (02) :100-105

[6] GENE CONVERSION-LIKE EVENTS CAUSE STEROID 21-HYDROXYLASE DEFICIENCY IN CONGENITAL ADRENAL-HYPERPLASIA [J].

HARADA, F ;

KIMURA, A ;

IWANAGA, T ;

SHIMOZAWA, K ;

YATA, J ;

SASAZUKI, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (22) :8091-8094

[7] 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

[8] 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 ;

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FERRANDEZ, A ;

BURR, IM .

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

[9] STATEMENT ON THE NOMENCLATURE OF HUMAN C4-ALLOTYPES [J].

MAUFF, G ;

ALPER, CA ;

AWDEH, Z ;

BATCHELOR, JR ;

BERTRAMS, J ;

BRUUNPETERSEN, G ;

DAWKINS, RL ;

DEMANT, P ;

EDWARDS, J ;

GROSSEWILDE, H ;

HAUPTMANN, G ;

KLOUDA, P ;

LAMM, L ;

MOLLENHAUER, E ;

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ONEILL, G ;

RITTNER, C ;

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SKANES, V ;

TEISBERG, P ;

WELLS, L .

IMMUNOBIOLOGY, 1983, 164 (02) :184-191

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

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DUNHAM, I ;

YU, CY ;

CARROLL, MC ;

PORTER, RR ;

CAMPBELL, RD .

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

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