A point mutation in the 5′ splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA-Reference-Cited by-同舟云学术

A point mutation in the 5′ splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA

Published:1993-03 Issue:3 Volume:51 Page:322-325
ISSN:0730-2312
Container-title:Journal of Cellular Biochemistry
language:en
Short-container-title:J. Cell. Biochem.

Author:

Kawamoto Hiroshi,Ito Kazuhiko,Kashii Saburo,Monden Sumie,Fujita Masahiro,Norioka Mihoko,Sasai Yoshiki,Okuma Minoru

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference34 articles.

1. Inherited enzyme deficiencies and immunodeficiency: Adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies

2. ADENOSINE-DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITY

3. Severe Combined Immunodeficiency Disease

4. : Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In (eds): “The Metabolic Basis of Inherited disease,” 6th ed. New York: McGraw-Hill Book Co., pp 1045-1075, 1989.

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1. Adenosine Deaminase Is a Specific Partner for the Grb2 Isoform Grb3-3;Biochemical and Biophysical Research Communications;1997-08

2. Adenosine Deaminase Deficiency in Adults;Blood;1997-04-15

3. Adenosine deaminase deficiency: molecular basis and recent developments;Clinical Immunology and Immunopathology;1995-09

4. A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein;Human Molecular Genetics;1993