Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
Peter M. Krawitz; Yoshiko Murakami; Jochen Hecht; Ulrike Krüger; Susan E. Holder; Geert R. Mortier; Barbara Delle Chiaie; Elfride De Baere; Miles D. Thompson; Tony Roscioli; Szymon Kielbasa; Taroh Kinoshita; Stefan Mundlos; Peter N. Robinson; Denise Horn
- 作者Peter M. Krawitz; Yoshiko Murakami; Jochen Hecht; Ulrike Krüger; Susan E. Holder; Geert R. Mortier; Barbara Delle Chiaie; Elfride De Baere; Miles D. Thompson; Tony Roscioli; Szymon Kielbasa; Taroh Kinoshita; Stefan Mundlos; Peter N. Robinson; Denise Horn
- 卷第91卷
- 期第1期
- 印刷ISSN0002-9297
- 电子ISSN1537-6605
- 文件大小635.20KB
- 发表时间2012
- DOI10.1016/j.ajhg.2012.05.004