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

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

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BORIS DOI
10.7892/boris.98175
Publisher DOI
10.1016/j.ajhg.2017.01.002
PubMed ID
28132689
Date of Publication
2017
Publication Type
Article
Subject(s)
600 Technology > 610 Medicine & health
Language(s)
en
Contributor(s)
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
Ziv-Strasser, Limor
Malicdan, May Christine V.
Gemperle-Britschgi, Corinne
Cremer, Kirsten
Engels, Hartmut
Meili, David
Keller, Irene
Departement Klinische Forschung (DKF)
Bruggmann, Rémy
Bioinformatik und computerbasierte Biologie
Strom, Tim M.
Meitinger, Thomas
Mullikin, James C.
Schwartz, Gerard
Ben-Zeev, Bruria
Gahl, William A.
Harper, J. Wade
Blau, Nenad
Hoffmann, Georg F.
Prokisch, Holger
Opladen, Thomas
Schiff, Manuel
Additional Credits
Departement Klinische Forschung (DKF)
Bioinformatik und computerbasierte Biologie
Series
American journal of human genetics
Publisher
Cell Press
ISSN
0002-9297
Access(Rights)
restricted
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