UNIQUE MUTATIONS OF BRUTON TYROSINE KINASE IN 14 UNRELATED X-LINKED AGAMMAGLOBULINEMIA FAMILIES

被引：34

作者：

ZHU, QL

ZHANG, M

WINKELSTEIN, J

CHEN, SH

OCHS, HD

机构：

[1] UNIV WASHINGTON,SCH MED,DEPT PEDIAT,SEATTLE,WA 98195

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 10期

关键词：

D O I：

10.1093/hmg/3.10.1899

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：1899 / 1900

页数：2

共 14 条

[1] MUTATION DETECTION IN THE X-LINKED AGAMMAGLOBULINEMIA GENE, BTK, USING SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS [J].

BRADLEY, LAD ;

SWEATMAN, AK ;

LOVERING, RC ;

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KINNON, C .

HUMAN MOLECULAR GENETICS, 1994, 3 (01) :79-83

[2]

BRUTON OC, 1952, PEDIATRICS, V9, P722

[3]

Cooper DN, 1993, HUMAN GENE MUTATION, P109

[4] MUTATION ANALYSIS OF THE BRUTONS TYROSINE KINASE GENE IN X-LINKED AGAMMAGLOBULINEMIA - IDENTIFICATION OF A MUTATION WHICH AFFECTS THE SAME CODON AS IS ALTERED IN IMMUNODEFICIENT XID MICE [J].

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SCHUURMAN, RKB ;

HENDRIKS, RW .

HUMAN MOLECULAR GENETICS, 1994, 3 (01) :161-166

[5] IMMUNOLOGIC RESPONSES TO BACTERIOPHAGE PHI-X-174 IN IMMUNODEFICIENCY DISEASES [J].

OCHS, HD ;

DAVIS, SD ;

WEDGWOOD, RJ .

JOURNAL OF CLINICAL INVESTIGATION, 1971, 50 (12) :2559-&

[6]

OCHS HD, 1989, IMMUNOLOGIC DISORDER, P226

[7]

OHTA Y, IN PRESS PNAS

[8] MUTATION OF UNIQUE REGION OF BRUTONS TYROSINE KINASE IN IMMUNODEFICIENT XID MICE [J].

RAWLINGS, DJ ;

SAFFRAN, DC ;

TSUKADA, S ;

LARGAESPADA, DA ;

GRIMALDI, JC ;

COHEN, L ;

MOHR, RN ;

BAZAN, JF ;

HOWARD, M ;

COPELAND, NG ;

JENKINS, NA ;

WITTE, ON .

SCIENCE, 1993, 261 (5119) :358-361

[9] A POINT MUTATION IN THE SH2 DOMAIN OF BRUTONS TYROSINE KINASE IN ATYPICAL X-LINKED AGAMMAGLOBULINEMIA - BRIEF REPORT [J].

SAFFRAN, DC ;

PAROLINI, O ;

FITCHHILGENBERG, ME ;

RAWLINGS, DJ ;

AFAR, DEH ;

WITTE, ON ;

CONLEY, ME .

NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (21) :1488-1491

[10] DIDEOXY FINGERPRINTING (DDF) - A RAPID AND EFFICIENT SCREEN FOR THE PRESENCE OF MUTATIONS [J].

SARKAR, G ;

YOON, HS ;

SOMMER, SS .

GENOMICS, 1992, 13 (02) :441-443

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