22. Collective strength in rare diseases: Longitudinal studies of the glycoproteinoses

Authors: Cathey, Sara, Wood, Tim, Friez, Mike, Jules, Leroy

Source: In Molecular Genetics and Metabolism 2009 96(2):S17-S17

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux.

Authors: Cynthia F. Bartels, Hülya Beükülmez, Pius Padayatti, David K. Rhee, Conny van Ravenswaaij-Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, Lihadh I. Al-Gazali, Sarina Kant, Trevor Cole, Jenny Morton, Valérie Cormier-Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert R. Mortier, Jules Leroy, Bernhard Zabel

Source: American Journal of Human Genetics. Jul2004, Vol. 75 Issue 1, p27-34. 8p.

Subjects: GENETIC mutation, PEPTIDES, DYSPLASIA, CELL transformation, PROTEINS, DNA