Referenced in: none

Automatically associated channels: ClC4 , ClC7

Title: Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Authors: Alessandra Pangrazio, Michael Pusch, Elena Caldana, Annalisa Frattini, Edoardo Lanino, Parag M Tamhankar, Shubha Phadke, Antonio Gonzalez Meneses Lopez, Paul Orchard, Ercan Mihci, Mario Abinun, Michael Wright, Kim Vettenranta, Ivo Bariae, Daniela Melis, Ilhan Tezcan, Clarisse Baumann, Franco Locatelli, Marco Zecca, Edwin Horwitz, Lamia Sfaihi Ben Mansour, Mirjam Van Roij, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal, date & volume: Hum. Mutat., 2010 Jan , 31, E1071-80

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19953639

Abstract