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3 in total

1. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Authors: Marianne Paulsen; Connie Lund; Zarqa Akram; Jakob R Winther; Nina Horn; Lisbeth Birk Møller
Journal: Am J Hum Genet Date: 2006-06-05 Impact factor: 11.025

2. Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.

Authors: Kathleen F Benson; Richard E Person; Feng-Qian Li; Kayleen Williams; Marshall Horwitz
Journal: Nucleic Acids Res Date: 2004-12-01 Impact factor: 16.971

3. Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Authors: Anika Wehrle; Tomasz M Witkos; Sheila Unger; Judith Schneider; John A Follit; Johannes Hermann; Tim Welting; Virginia Fano; Marja Hietala; Nithiwat Vatanavicharn; Katharina Schoner; Jürgen Spranger; Miriam Schmidts; Bernhard Zabel; Gregory J Pazour; Agnes Bloch-Zupan; Gen Nishimura; Andrea Superti-Furga; Martin Lowe; Ekkehart Lausch
Journal: JCI Insight Date: 2019-02-07

3 in total