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 |