✦ LIBER ✦

A simple test for the high-frequency P291fsinsC mutation in the HNF1α/MODY3 gene

Book ID: 105822261
Publisher: Springer
Year: 2000
Tongue: English
Weight: 97 KB
Volume: 43
Category: Article
ISSN: 0012-186X
DOI: 10.1007/s001250051383

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The spectrum of HNF1A gene mutations in

The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations

✍ Tatsi, Christina; Kanaka-Gantenbein, Christina; Vazeou-Gerassimidi, Adriani; Chr 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 533 KB

Non-penetrance in a MODY 3 family with a

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing

✍ Miedzybrodzka, Z; Hattersley, A T; Ellard, S; Pearson, D; de Silva, D; Harvey, R 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 222 KB

High frequency of mutations in the HNF-1

High frequency of mutations in the HNF-1α gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance

✍ N., Tonooka; Y., Takahashi; K., Onigata; N., Kikuchi; Y., Horikawa; M., Mori; J. 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 141 KB

Proposed mechanism for a novel insertion

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)

✍ Sian Ellard; Michael P. Bulman; Timothy M. Frayling; Maggie Shepherd; Andrew T. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 130 KB 👁 1 views

A High-Frequency Mutation in Bacillus su

A High-Frequency Mutation in Bacillus subtilis: Requirements for the Decryptification of the gudB Glutamate Dehydrogenase Gene

✍ Gunka, K.; Tholen, S.; Gerwig, J.; Herzberg, C.; Stulke, J.; Commichau, F. M. 📂 Article 📅 2011 🏛 American Society for Microbiology 🌐 English ⚖ 538 KB

High frequency of the 425A→G splice-site

High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

✍ M. Csikós; H.I. Szőcs; A. Lászik; S. Mecklenbeck; A. Horváth; S. Kárpáti; L. Bru 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB