Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency.
Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Japan.
Y
Y
Minegishi
N
N
Ishii
H
H
Maeda
S
S
Takagi
M
M
Tsuchida
H
H
Okawa
K
K
Sugamura
J
J
Yata
D000225:Adenine; D001483:Base Sequence; D003596:Cytosine; D017931:DNA Primers; D005260:Female; D006801:Humans; D007564:Japan; D046911:Macromolecular Substances; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015375:Receptors, Interleukin-2 / Q000737:chemistry / Q000235:genetics*; D012016:Reference Values; D017384:Sequence Deletion; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology*; D014960:X Chromosome
D017931:DNA Primers; D046911:Macromolecular Substances; D015375:Receptors, Interleukin-2; D003596:Cytosine; D000225:Adenine