Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

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)

UniBE Contributor:

Keller, Irene and 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:

30 Oct 2017 13:06

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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