Two independent retrotransposon insertions at the same site within the coding region of BTK. [electronic resource]
Producer: 20060516Description: 324-5 p. digitalISSN:- 1098-1004
- 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
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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.
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