Article
[Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer].
Genetika - 1 Feb 2004
Smagulova F O, Brenner E V, Kotova L Iu, Koren' O L, Nagaĭtsev V M, Zhabin S G, Morozov I V
Abstract excerpt
Mutations were studied in phenylalanine hydroxylase gene of phenylketonuria patients from Kemerovo oblast and Altaiskii krai (15 and 2 families, respectively). The following mutations were identified in exons of this gene: R408W, R261Q, R243Q, Y414C, Y386C, P281L, Y168H, R68S (lead to amino acid substitutions), R243X (leads to stop codon formation), and three splice site mutations (IVS12nt 1g-->a, IVS2nt-13t-->g,...
Topics
- Automation
- Base Sequence
- Codon, Terminator
- DNA Primers
- Exons
- Mutation
- Phenylalanine Hydroxylase
- Sequence Analysis, DNA