✦ LIBER ✦

Intronic deletion and duplication proximal of the EXT1 gene: A novel causative mechanism for multiple osteochondromas

✍ Scribed by Waaijer, Cathelijn J. F.; Winter, Marcel G. T.; Reijnders, Christianne M. A.; de Jong, Daniëlle; John Ham, S.; Bovée, Judith V. M. G.; Szuhai, Károly

Book ID: 120083420
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 391 KB
Volume: 52
Category: Article
ISSN: 1045-2257
DOI: 10.1002/gcc.22041

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Intragenic deletions and duplications of

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

✍ Haverfield, Eden V; Whited, Amanda J; Petras, Kristin S; Dobyns, William B; Das, 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 135 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