A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
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NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.Ethanolamine phosphotransferase 1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in human.Historical Perspective: Phosphatidylserine and Phosphatidylethanolamine from the 1800s to the Present.Selenium-Dependent Antioxidant Enzymes: Actions and Properties of Selenoproteins.
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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 January 2017
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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A mutation of EPT1 (SELENOI) u ...... way phospholipid biosynthesis.
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A mutation of EPT1
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type
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A mutation of EPT1 (SELENOI) u ...... way phospholipid biosynthesis.
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A mutation of EPT1
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prefLabel
A mutation of EPT1 (SELENOI) u ...... way phospholipid biosynthesis.
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A mutation of EPT1
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A mutation of EPT1 (SELENOI) u ...... hway phospholipid biosynthesis
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Aisha Al-Khayat
Amna Al-Futaisi
Andrew H Crosby
Christopher R McMaster
David L Silver
Faisal Al-Azri
Fatema Al-Salmi
Fathiya Al-Murshedi
Fatma Al-Rashdi
Gaurav V Harlalka
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P304
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10.1093/BRAIN/AWW318
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P577
2017-03-01T00:00:00Z