Khourieh, Joëlle

A deep intronic splice mutation of [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America 08 2019 - 16463-16472 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1091-6490

10.1073/pnas.1901409116 doi


Adult
Alleles
B-Lymphocytes--metabolism
Child, Preschool
DNA-Binding Proteins--genetics
Exons--genetics
Female
Gene Expression Regulation--genetics
Heterozygote
Humans
Job Syndrome--genetics
Loss of Function Mutation--genetics
Male
Middle Aged
RNA Splice Sites--genetics
STAT3 Transcription Factor--genetics
T-Lymphocytes--metabolism