Hirschhorn, R <br/><br/>
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.  [electronic resource] 

 -  American journal of human genetics  Jul 1994 
 - 59-68 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Deaminase--deficiency<br/>Alleles<br/>Arginine<br/>B-Lymphocytes--enzymology<br/>Base Sequence<br/>Cell Line<br/>Child, Preschool<br/>Chromosomes, Human, Pair 16<br/>Chromosomes, Human, Pair 20<br/>DNA Mutational Analysis<br/>Deoxyadenine Nucleotides--blood<br/>Electrophoresis, Polyacrylamide Gel<br/>Glutamine<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mosaicism<br/>Point Mutation<br/>RNA Splicing--genetics<br/>RNA, Messenger--genetics<br/>Remission, Spontaneous<br/>Repetitive Sequences, Nucleic Acid<br/>Severe Combined Immunodeficiency--genetics<br/>Y Chromosome