A Deficit of ATP-ase Subunit 8: with Contribution for Two New Cases
In two consanguineous children brother and sister were reported rare mitochondrial disorder caused by mutation of the gene of MT-ATP8: base change T8412C, with aminoacid change: methionin - threonine which wasthe cause for decreased activity of the synthesized protein (enzyme) and to dysfunction of...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Academic Publishing House
2007-12-01
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Series: | Bioautomation |
Subjects: | |
Online Access: | http://www.clbme.bas.bg/bioautomation/2007/vol_8.1/files/8_3.5.pdf |