ADENOSINE-DEAMINASE DEFICIENCY - MOLECULAR-BASIS AND RECENT DEVELOPMENTS

[1] MUTATIONS IN THE HUMAN ADENOSINE-DEAMINASE GENE THAT AFFECT PROTEIN-STRUCTURE AND RNA SPLICING [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (16) : 5947 - 5951

[2] AKESON AL, 1988, J BIOL CHEM, V263, P16291

[3] ALTASOY U, 1993, HUM MOL GENET, V2, P107

[4] FUNCTIONAL-ANALYSIS OF THE HUMAN ADENOSINE-DEAMINASE GENE THYMIC REGULATORY REGION AND ITS ABILITY TO GENERATE POSITION-INDEPENDENT TRANSGENE EXPRESSION [J]. MOLECULAR AND CELLULAR BIOLOGY, 1992, 12 (09) : 4170 - 4185

[5] ARREDONDOVEGA FX, 1994, AM J HUM GENET, V54, P820

[6] IDENTICAL 3250-BP DELETION BETWEEN 2 ALUL REPEATS IN THE ADA GENES OF UNRELATED ADA-SCID PATIENTS [J]. GENOMICS, 1990, 7 (04) : 486 - 490

[7] IDENTIFICATION OF A POINT MUTATION IN THE ADENOSINE-DEAMINASE GENE RESPONSIBLE FOR IMMUNODEFICIENCY [J]. JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (02) : 894 - 897

[8] DEDUCED AMINO-ACID-SEQUENCE OF ESCHERICHIA-COLI ADENOSINE-DEAMINASE REVEALS EVOLUTIONARILY CONSERVED AMINO-ACID-RESIDUES - IMPLICATIONS FOR CATALYTIC FUNCTION [J]. BIOCHEMISTRY, 1991, 30 (08) : 2273 - 2280

[9] DEOXYADENOSINE TRIPHOSPHATE AS A POTENTIALLY TOXIC METABOLITE IN ADENOSINE-DEAMINASE DEFICIENCY [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (01) : 472 - 476

[10] COLLIS MG, 1993, TRENDS PHARMACOL SCI, V14, P360

[1] MUTATIONS IN THE HUMAN ADENOSINE-DEAMINASE GENE THAT AFFECT PROTEIN-STRUCTURE AND RNA SPLICING [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (16) : 5947 - 5951

[2] AKESON AL, 1988, J BIOL CHEM, V263, P16291

[3] ALTASOY U, 1993, HUM MOL GENET, V2, P107

[4] FUNCTIONAL-ANALYSIS OF THE HUMAN ADENOSINE-DEAMINASE GENE THYMIC REGULATORY REGION AND ITS ABILITY TO GENERATE POSITION-INDEPENDENT TRANSGENE EXPRESSION [J]. MOLECULAR AND CELLULAR BIOLOGY, 1992, 12 (09) : 4170 - 4185

[5] ARREDONDOVEGA FX, 1994, AM J HUM GENET, V54, P820

[6] IDENTICAL 3250-BP DELETION BETWEEN 2 ALUL REPEATS IN THE ADA GENES OF UNRELATED ADA-SCID PATIENTS [J]. GENOMICS, 1990, 7 (04) : 486 - 490

[7] IDENTIFICATION OF A POINT MUTATION IN THE ADENOSINE-DEAMINASE GENE RESPONSIBLE FOR IMMUNODEFICIENCY [J]. JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (02) : 894 - 897

[8] DEDUCED AMINO-ACID-SEQUENCE OF ESCHERICHIA-COLI ADENOSINE-DEAMINASE REVEALS EVOLUTIONARILY CONSERVED AMINO-ACID-RESIDUES - IMPLICATIONS FOR CATALYTIC FUNCTION [J]. BIOCHEMISTRY, 1991, 30 (08) : 2273 - 2280

[9] DEOXYADENOSINE TRIPHOSPHATE AS A POTENTIALLY TOXIC METABOLITE IN ADENOSINE-DEAMINASE DEFICIENCY [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (01) : 472 - 476

[10] COLLIS MG, 1993, TRENDS PHARMACOL SCI, V14, P360