TY  - GEN
AU  - Hirschhorn,R
AU  - Yang,D R
AU  - Israni,A
AU  - Huie,M L
AU  - Ownby,D R
TI  - Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery
SN  - 0002-9297
PY  - 1994///0729
KW  - Adenosine Deaminase
KW  - deficiency
KW  - Alleles
KW  - Arginine
KW  - B-Lymphocytes
KW  - enzymology
KW  - Base Sequence
KW  - Cell Line
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 16
KW  - Chromosomes, Human, Pair 20
KW  - DNA Mutational Analysis
KW  - Deoxyadenine Nucleotides
KW  - blood
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Glutamine
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mosaicism
KW  - Point Mutation
KW  - RNA Splicing
KW  - genetics
KW  - RNA, Messenger
KW  - Remission, Spontaneous
KW  - Repetitive Sequences, Nucleic Acid
KW  - Severe Combined Immunodeficiency
KW  - Y Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S
ER  -