✦ LIBER ✦

A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII

✍ Scribed by Takayuki Yamada; Yuta Fujimori; Atsuo Suzuki; Yuhri Miyawaki; Akira Takagi; Takashi Murate; Masayuki Sano; Tadashi Matsushita; Hidehiko Saito; Tetsuhito Kojima

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 350 KB
Volume: 84
Category: Article
ISSN: 0361-8609
DOI: 10.1002/ajh.21532

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the MCFD2 gene and a novel

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII

✍ Dipika Mohanty; Kanjaksha Ghosh; Shrimati Shetty; Marta Spreafico; Isabella Gara 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 2 views

Combined heterozygosity of factor V Leid

Combined heterozygosity of factor V Leiden and the G20210A prothrombin gene mutation in a patient with cerebral cortical vein thrombosis

✍ Xiao-Yuan Liu; Theodore G. Gabig; Nils U. Bang 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB

Two novel missense mutations of the OCTN

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

✍ E. Mayatepek; J. Nezu; I. Tamai; A. Oku; M. Katsura; M. Shimane; A. Tsuji 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating Reye´s syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. R