SEVERE COMBINED IMMUNE-DEFICIENCY DUE TO A HOMOZYGOUS 3.2-KB DELETION SPANNING THE PROMOTER AND 1ST EXON OF THE ADENOSINE-DEAMINASE GENE

被引：38

作者：

BERKVENS, TM

GERRITSEN, EJA

OLDENBURG, M

BREUKEL, C

WIJNEN, JT

VANORMONDT, H

VOSSEN, JM

VANDEREB, AJ

KHAN, PM

机构：

[1] STATE UNIV LEIDEN,DEPT MED BIOCHEM,2333 AL LEIDEN,NETHERLANDS

[2] STATE UNIV LEIDEN,MED CTR,DEPT PEDIAT,2333 AA LEIDEN,NETHERLANDS

来源：

NUCLEIC ACIDS RESEARCH | 1987年 / 15卷 / 22期

关键词：

D O I：

10.1093/nar/15.22.9365

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：9365 / 9378

页数：14

共 28 条

[1] STRUCTURE OF ADENOSINE-DEAMINASE MESSENGER-RNAS FROM NORMAL AND ADENOSINE DEAMINASE-DEFICIENT HUMAN CELL-LINES [J].

ADRIAN, GS ;

WIGINTON, DA ;

HUTTON, JJ .

MOLECULAR AND CELLULAR BIOLOGY, 1984, 4 (09) :1712-1717

[2] INVESTIGATION OF THE INTRACHROMOSOMAL POSITION OF THE ADA LOCUS ON CHROMOSOME-20 BY GENE DOSAGE STUDIES [J].

AITKEN, DA ;

FERGUSONSMITH, MA .

CYTOGENETICS AND CELL GENETICS, 1978, 22 (1-6) :514-517

[3]

AUFFRAY C, 1980, EUR J BIOCHEM, V107, P303

[4]

BAKKER E, 1985, LANCET, V1, P655

[5] IDENTIFICATION OF A POINT MUTATION IN THE ADENOSINE-DEAMINASE GENE RESPONSIBLE FOR IMMUNODEFICIENCY [J].

BONTHRON, DT ;

MARKHAM, AF ;

GINSBURG, D ;

ORKIN, SH .

JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (02) :894-897

[6] ISOLATION OF MUTANT ADENOSINE-DEAMINASE BY COFORMYCIN AFFINITY-CHROMATOGRAPHY [J].

DANTON, MJ ;

COLEMAN, MS .

ANALYTICAL BIOCHEMISTRY, 1986, 159 (01) :233-239

[7]

GIBLETT ER, 1972, LANCET, V2, P1067

[8] BASIC DEFECT IN THE EXPRESSION OF ADENOSINE-DEAMINASE IN ADA SCID DISEASE INVESTIGATED THROUGH THE CELLS OF AN OBLIGATE HETEROZYGOTE [J].

HERBSCHLEBVOOGT, E ;

PEARSON, PL ;

VOSSEN, JM ;

KHAN, PM .

HUMAN GENETICS, 1981, 56 (03) :379-386

[9]

HERBSCHLEBVOOGT E, 1983, THESIS LEIDEN, P51

[10] TREATMENT OF ADENOSINE-DEAMINASE DEFICIENCY WITH POLYETHYLENE-GLYCOL MODIFIED ADENOSINE-DEAMINASE [J].

HERSHFIELD, MS ;

BUCKLEY, RH ;

GREENBERG, ML ;

MELTON, AL ;

SCHIFF, R ;

HATEM, C ;

KURTZBERG, J ;

MARKERT, ML ;

KOBAYASHI, RH ;

KOBAYASHI, AL ;

ABUCHOWSKI, A .

NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (10) :589-596

← 1 2 3 →