Homozygous mutation in the eukaryotic translation...

Human Molecular Genetics 2015 / 08

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B , is associated with severe microcephaly, short stature, and intellectual disability

Kernohan, Kristin D., Tétreault, Martine, Liwak-Muir, Urszula, Geraghty, Michael T., Qin, Wen, Venkateswaran, Sunita, Davila, Jorge, Holcik, Martin, Majewski, Jacek, Richer, Julie, Boycott, Kym M.
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Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddv337
Date:
August, 2015
File:
PDF, 587 KB
english, 2015
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