PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

التفاصيل البيبلوغرافية
العنوان: PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
المؤلفون: Stephan Züchner, Jonathan Baets, Danique Beijer, Matthis Synofzik, Jonathan De Winter, Willem De Ridder, Philip Van Damme, Werner Spileers
المساهمون: PREPARE Consortium
المصدر: Brain 144(2), e17-e17 (2021). doi:10.1093/brain/awaa389
Brain
بيانات النشر: Oxford Univ. Press, 2021.
سنة النشر: 2021
مصطلحات موضوعية: 0303 health sciences, CDP ethanolamine, Spastic Paraplegia, Hereditary, PREPARE consortium, Ethanolamines, genetics [Mutation], Biology, Phenotype, Cytidine Diphosphate, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Biochemistry, chemistry, Biosynthesis, Humans, Human medicine, Neurology (clinical), ddc:610, 030217 neurology & neurosurgery, Cytidine diphosphate, 030304 developmental biology
الوصف: ispartof: BRAIN vol:144 issue:2 ispartof: location:England status: published
وصف الملف: Print
اللغة: English
تدمد: 0006-8950
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3331edc261c8c5aaabca4443c50d82fTest
https://pub.dzne.de/record/156018Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....e3331edc261c8c5aaabca4443c50d82f
قاعدة البيانات: OpenAIRE