Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA.
Murakami Y, et al. Among authors: kinoshita t.
PLoS Genet. 2014 May 1;10(5):e1004320. doi: 10.1371/journal.pgen.1004320. eCollection 2014 May.
PLoS Genet. 2014.
PMID: 24784135
Free PMC article.