✦ LIBER ✦

Hyperinsulinaemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor (IR) gene

✍ Scribed by Zhimin Huang; Yanbing Li; Tianyi Tang; Wen Xu; Zhihong Liao; Bin Yao; Guoliang Hu; Jianping Weng

Book ID: 108704394
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 169 KB
Volume: 71
Category: Article
ISSN: 0300-0664
DOI: 10.1111/j.1365-2265.2009.03525.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A missense mutation in the glucagon rece

A missense mutation in the glucagon receptor gene is associated with non–insulin–dependent diabetes mellitus

✍ Hager, J.; Hansen, L.; Vaisse, C.; Vionnet, N.; Philippi, A.; Poller, W.; Velho, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 595 KB

A missense mutation of the muscle glycog

A missense mutation of the muscle glycogen synthase gene (M416V) is associated with insulin resistance in the Japanese population

✍ H. Shimomura; T. Sanke; K. Ueda; T. Hanabusa; S. Sakagashira; K. Nanjo 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 137 KB

A missense (T577I) mutation in the lutei

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty

✍ Sandro Cocco; Antonella Meloni; Maria Giuseppina Marini; Antonio Cao; Paolo Moi 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 2 views

## Communicated trj F a d Chehab Familial male-limited precocious puberty (FMPP) is an autosomal dominant condition that affects exclusively boys. The isosexual precocious

A missense mutation in the bovine leptin

A missense mutation in the bovine leptin receptor gene is associated with leptin concentrations during late pregnancy

✍ S. C. Liefers; R. F. Veerkamp; M. F. W. te Pas; C. Delavaud; Y. Chilliard; T. va 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB

Autosomal dominant bullous dermolysis of

Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen

✍ John Frew; Shueh W Lim; Alfred Klausseger; Chung W Chow; Kim Tran; John Su; Davi 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 571 KB

Clinical significance of heterozygous ca

Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese

✍ Keisuke Kanda; Haruo Mizuno; Yukari Sugiyama; Hiroki Imamine; Hajime Togari; Kaz 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 156 KB