A NOVEL MUTATION LOCALIZED IN THE 3' NON-HMG BOX REGION OF THE SRY GENE IN 46,XY GONADAL-DYSGENESIS

被引：70

作者：

TAJIMA, T ^{[1
]}

NAKAE, J ^{[1
]}

SHINOHARA, N ^{[1
]}

FUJIEDA, K ^{[1
]}

机构：

[1] HOKKAIDO UNIV, SCH MED, DEPT PEDIAT, SAPPORO 060, JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 07期

关键词：

D O I：

10.1093/hmg/3.7.1187

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：

引用

页码：1187 / 1189

页数：3

共 12 条

[1] GENETIC-EVIDENCE EQUATING SRY AND THE TESTIS-DETERMINING FACTOR [J].

BERTA, P ;

HAWKINS, JR ;

SINCLAIR, AH ;

TAYLOR, A ;

GRIFFITHS, BL ;

GOODFELLOW, PN ;

FELLOUS, M .

NATURE, 1990, 348 (6300) :448-450

[2]

HAWKINS JR, 1992, AM J HUM GENET, V51, P979

[3] A HUMAN XY FEMALE WITH A FRAME SHIFT MUTATION IN THE CANDIDATE TESTIS-DETERMINING GENE SRY [J].

JAGER, RJ ;

ANVRET, M ;

HALL, K ;

SCHERER, G .

NATURE, 1990, 348 (6300) :452-454

[4] MALE DEVELOPMENT OF CHROMOSOMALLY FEMALE MICE TRANSGENIC FOR SRY [J].

KOOPMAN, P ;

GUBBAY, J ;

VIVIAN, N ;

GOODFELLOW, P ;

LOVELLBADGE, R .

NATURE, 1991, 351 (6322) :117-121

[5] SEX DETERMINING GENE-EXPRESSION DURING EMBRYOGENESIS [J].

LOVELLBADGE, R .

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 1993, 339 (1288) :159-164

[6] XY SEX REVERSAL ASSOCIATED WITH A DELETION 5' TO THE SRY HMG BOX IN THE TESTIS-DETERMINING REGION [J].

MCELREAVY, K ;

VILAIN, E ;

ABBAS, N ;

COSTA, JM ;

SOULEYREAU, N ;

KUCHERIA, K ;

BOUCEKKINE, C ;

THIBAUD, E ;

BRAUNER, R ;

FLAMANT, F ;

FELLOUS, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (22) :11016-11020

[7]

NER S S, 1992, Current Biology, V2, P208, DOI 10.1016/0960-9822(92)90541-H

[8] RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].

ORITA, M ;

SUZUKI, Y ;

SEKIYA, T ;

HAYASHI, K .

GENOMICS, 1989, 5 (04) :874-879

[9] A GENE FROM THE HUMAN SEX-DETERMINING REGION ENCODES A PROTEIN WITH HOMOLOGY TO A CONSERVED DNA-BINDING MOTIF [J].

SINCLAIR, AH ;

BERTA, P ;

PALMER, MS ;

HAWKINS, JR ;

GRIFFITHS, BL ;

SMITH, MJ ;

FOSTER, JW ;

FRISCHAUF, AM ;

LOVELLBADGE, R ;

GOODFELLOW, PN .

NATURE, 1990, 346 (6281) :240-244

[10] DE-NOVO MUTATION CAUSES STEROID 21-HYDROXYLASE DEFICIENCY IN ONE FAMILY OF HLA-IDENTICAL AFFECTED AND UNAFFECTED SIBLINGS [J].

TAJIMA, T ;

FUJIEDA, K ;

FUJIIKURIYAMA, Y .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 77 (01) :86-89

← 1 2 →