Vella, S.; Steiner, F.; Schlumbom, V.; Zurbrügg, R.; Wiesmann, U. N.; Schaffner, T.; Wermuth, B. (1997). Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. Journal of inherited metabolic disease, 20(4), pp. 517-524. Springer 10.1023/A:1005397329395
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Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry 04 Faculty of Medicine > Service Sector > Institute of Pathology |
UniBE Contributor: |
Schaffner, Thomas, Wermuth, Bendicht |
Subjects: |
600 Technology > 610 Medicine & health 500 Science > 570 Life sciences; biology |
ISSN: |
0141-8955 |
Publisher: |
Springer |
Language: |
English |
Submitter: |
Markus Müller |
Date Deposited: |
10 Sep 2018 14:31 |
Last Modified: |
14 Jun 2024 21:00 |
Publisher DOI: |
10.1023/A:1005397329395 |
BORIS DOI: |
10.7892/boris.118059 |
URI: |
https://boris.unibe.ch/id/eprint/118059 |
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