Conley, Mary Ellen

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