TY  - GEN
AU  - Conley,Mary Ellen
AU  - Partain,Julie D
AU  - Norland,Shannon M
AU  - Shurtleff,Sheila A
AU  - Kazazian,Haig H
TI  - Two independent retrotransposon insertions at the same site within the coding region of BTK
SN  - 1098-1004
PY  - 2006///0516
KW  - Agammaglobulinaemia Tyrosine Kinase
KW  - Agammaglobulinemia
KW  - genetics
KW  - Base Sequence
KW  - Chromosomes, Human, X
KW  - DNA Mutational Analysis
KW  - Disease Susceptibility
KW  - Epilepsy
KW  - Exons
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Immunoglobulins, Intravenous
KW  - therapeutic use
KW  - Infant
KW  - Infections
KW  - etiology
KW  - Introns
KW  - Long Interspersed Nucleotide Elements
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Molecular Sequence Data
KW  - Mutagenesis, Insertional
KW  - Polymorphism, Single-Stranded Conformational
KW  - Protein-Tyrosine Kinases
KW  - Recurrence
KW  - Retroelements
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.9321
ER  -