✦ LIBER ✦

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

✍ Scribed by Kiyomi Mizugishi; Keiko Yamanaka; Katsuko Kuwajima; Isao Yuasa; Kazuhiro Shigemoto; Ikuko Kondo

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in PMM2, a phosphomannomutase

✍ Matthijs, Gert; Schollen, Els; Pardon, Els; Veiga-Da-Cunha, Maria; Jaeken, Jaak; 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 794 KB

Corrigendum: Mutations in PMM2, a phosph

📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 102 KB

Effect of mutations found in carbohydrat

✍ Michel Pirard; Gert Matthijs; Leen Heykants; Els Schollen; Stephanie Grünewald; 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 91 KB

Neurophysiological findings in a case of

✍ Edvige Veneselli; Roberta Biancheri; Maja Dl Rocco; Silvia Tortorelli 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 549 KB

Phosphomannomutase deficiency is the mai

✍ J. Jaeken; J. Artigas; R. Barone; A. Fiumara; T. J. de Koning; B. T. Poll-The; J 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 13 KB

Poster 091: Two Missense Mutations of th

✍ Noriko Matsuzawa 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 41 KB