Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
PGAP2 的亚等位基因突变（编码 GPI 锚重塑蛋白）可导致常染色体隐性智力障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.03.008
Lars Hansen, Hasan Tawamie, Yoshiko Murakami, Yuan Mang, Shoaib ur Rehman, Rebecca Buchert, Stefanie Schaffer, Safia Muhammad, Mads Bak, Markus M Nöthen, Eric P Bennett, Yusuke Maeda, Michael Aigner, André Reis, Taroh Kinoshita, Niels Tommerup, Shahid Mahmood Baig, Rami Abou Jamra
