Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. [electronic resource]
Producer: 19940729Description: 59-68 p. digitalISSN:- 0002-9297
- Adenosine Deaminase -- deficiency
- Alleles
- Arginine
- B-Lymphocytes -- enzymology
- Base Sequence
- Cell Line
- Child, Preschool
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 20
- DNA Mutational Analysis
- Deoxyadenine Nucleotides -- blood
- Electrophoresis, Polyacrylamide Gel
- Glutamine
- Humans
- Male
- Molecular Sequence Data
- Mosaicism
- Point Mutation
- RNA Splicing -- genetics
- RNA, Messenger -- genetics
- Remission, Spontaneous
- Repetitive Sequences, Nucleic Acid
- Severe Combined Immunodeficiency -- genetics
- Y Chromosome
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Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
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