ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
作者： Clotilde Lagier-Tourenne , Meriem Tazir , Luis Carlos López , Catarina M. Quinzii , Mirna Assoum
DOI: 10.1016/J.AJHG.2007.12.024
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摘要: … with the ABI BigDye Terminator Kit (Applied Biosystems), which … cryptic splice sites in intron 11 leading to the insertion of 68 and … In both cases, 21 amino acids are inserted before an in …
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