Anikster, Yair; Haack, Tobias B.; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L.; Paulo, Joao A.; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; ... (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 100(2), pp. 257-266. Cell Press 10.1016/j.ajhg.2017.01.002
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Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) 08 Faculty of Science > Department of Biology > Bioinformatics and Computational Biology |
UniBE Contributor: |
Keller, Irene (B), Bruggmann, Rémy |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0002-9297 |
Publisher: |
Cell Press |
Language: |
English |
Submitter: |
Kurt Wyler |
Date Deposited: |
30 Oct 2017 12:59 |
Last Modified: |
29 Mar 2023 23:35 |
Publisher DOI: |
10.1016/j.ajhg.2017.01.002 |
PubMed ID: |
28132689 |
BORIS DOI: |
10.7892/boris.98175 |
URI: |
https://boris.unibe.ch/id/eprint/98175 |
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