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Results for “"Mahtab Tavasoli"”

2 results

Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephaly

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Chiara Klöckner, J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht et al.

Journal: BrainYear: 2022Citations: 13

The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten genes involved have been associated with a range of a...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
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Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephaly

Verified

Chiara Klöckner, J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht et al.

Journal: medRxivYear: 2021

Abstract The Kennedy pathways catalyze the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus since four out of ten genes involved have been associated with a...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
Read Source
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