Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies

Schmidt, Eva; Nuoffer, Jean-Marc; Häberle, Johannes; Pauli, Silke; Guffon, Nathalie; Vianey-Saban, Christine; Wermuth, Bendicht; Koch, Hans Georg (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et biophysica acta - molecular basis of disease, 1740(1), pp. 54-59. Elsevier 10.1016/j.bbadis.2005.02.006

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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

UniBE Contributor:

Nuoffer, Jean-Marc

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0925-4439

Publisher:

Elsevier

Language:

English

Submitter:

Jean-Marc Nuoffer

Date Deposited:

14 Jun 2018 15:54

Last Modified:

23 Oct 2019 07:09

Publisher DOI:

10.1016/j.bbadis.2005.02.006

PubMed ID:

15878741

BORIS DOI:

10.7892/boris.110098

URI:

https://boris.unibe.ch/id/eprint/110098

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