✦ LIBER ✦

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

✍ Scribed by Zarychanski, Ryan (author);Schulz, Vincent P. (author);Houston, Brett L. (author);Maksimova, Yelena (author);Houston, Donald S. (author);Smith, Brian (author);Rinehart, Jesse (author);Gallagher, Patrick G. (author)

Book ID: 115499565
Publisher: American Society of Hematology
Year: 2012
Tongue: English
Weight: 689 KB
Volume: 120
Category: Article
ISSN: 0006-4971
DOI: 10.1182/blood-2012-04-422253

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the mechanotransduction pro

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

✍ Zarychanski, Ryan (author);Schulz, Vincent P. (author);Houston, Brett L. (author 📂 Article 📅 2012 🏛 American Society of Hematology 🌐 English ⚖ 689 KB

Recurrent mutation in the PIEZO1 gene in

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

✍ Beneteau, C.; Thierry, G.; Blesson, S.; Le Vaillant, C.; Picard, V.; Béné, M.C.; 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 547 KB

Mutations in the early growth response 2

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

✍ Warner, Laura E.; Mancias, Pedro; Butler, Ian J.; McDonald, Craig M.; Keppen, La 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 387 KB

890 Mutations in the CFTR Gene are Assoc

890 Mutations in the CFTR Gene are Associated With Pancreatic Ductal Stone Formation in Hereditary Pancreatitis.

✍ Mark Ellrichmann; Monika S. Janot; Rainer Lebert; Wolfgang E. Schmidt; Waldemar 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 71 KB

Elevated MCP-1 serum levels are associat

Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis

✍ M. W. Lawless; M. White; A. K. Mankan; M. J. O’Dwyer; S. Norris 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB

Protein 4.1 Lille, a novel mutation in t

Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis

✍ M. Garbarz; I. Devaux; O. Bournier; B. Grandchamp; D. Dhermy 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB