Article
A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency.
Human mutation - 1 Jan 1998
Abo K, Nishio H, Lee M J, Tsuzuki D, Takahashi T, Yoshida S, Nakajima T, Matsuo M, Sumino K
Abstract excerpt
A novel insertion mutation in exon 6 of the Btk gene was detected in a 17 year-old XLA patient with GH insufficiency. We synthesized cDNA from leukocyte total RNA and amplified every region of the Btk-coding sequence. Sequencing of cDNA fragments revealed a single basepair insertion mutation at codon 157 in exon 6 (CAG-->CAAG) which leads to premature termination at codon 193 in exon 7. To confirm the results, we...
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