Two independent retrotransposon insertions at the same site within the coding region of BTK. [electronic resource]
- Human mutation Mar 2005
- 324-5 p. digital
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.
1098-1004
10.1002/humu.9321 doi
Agammaglobulinaemia Tyrosine Kinase Agammaglobulinemia--genetics Base Sequence Chromosomes, Human, X--genetics DNA Mutational Analysis Disease Susceptibility Epilepsy--genetics Exons--genetics Genetic Diseases, X-Linked--genetics Humans Immunoglobulins, Intravenous--therapeutic use Infant Infections--etiology Introns--genetics Long Interspersed Nucleotide Elements Male X-Linked Intellectual Disability--genetics Molecular Sequence Data Mutagenesis, Insertional Polymorphism, Single-Stranded Conformational Protein-Tyrosine Kinases--genetics Recurrence Retroelements--genetics