Publication
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties
TANIGAWA et al.
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu, Yoshiko Murakami
Human Mutation, April 2017, Wiley
DOI: 10.1002/humu.23219