Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

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)

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 and 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:

28 Oct 2019 06:26

Publisher DOI:

10.1023/A:1005397329395

BORIS DOI:

10.7892/boris.118059

URI:

https://boris.unibe.ch/id/eprint/118059

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