التفاصيل البيبلوغرافية
| العنوان: |
Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency |
| المؤلفون: |
Muniz, Joao R.C., Szeto, Natalie Wing-sum, Frise, Rebecca, Lee, Wen Hwa, Wang, Xian-song, Thöny, Beat, Himmelreich, Nastassja, Blau, Nenad, Hsiao, Kwang-Jen, Liu, Tze-Tze, Gileadi, Opher, Oppermann, Udo, Von Delft, Frank, Yue, Wyatt W., Tang, Nelson Leung-sang |
| المصدر: |
Pathology ; volume 51, issue 3, page 274-280 ; ISSN 0031-3025 |
| بيانات النشر: |
Elsevier BV |
| سنة النشر: |
2019 |
| المجموعة: |
ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1016/j.pathol.2018.11.011 |
| الإتاحة: |
https://doi.org/10.1016/j.pathol.2018.11.011Test
https://api.elsevier.com/content/article/PII:S0031302518304240?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0031302518304240?httpAccept=text/plainTest |
| حقوق: |
https://www.elsevier.com/tdm/userlicense/1.0Test/ ; http://www.elsevier.com/open-access/userlicense/1.0Test/ |
| رقم الانضمام: |
edsbas.FB62DF86 |
| قاعدة البيانات: |
BASE |
