Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Thalassaemias
Deborah Hay, David J Weatherall
Published online:
Androgen Insensitivity
Iain J McEwan
Published online: July 2018
Deconstructing Gene Function through ENU Mutagenesis
Paul K Potter
Published online: June 2018
Genetics of Autoinflammatory Diseases
Davide Martorana, Francesco Bonatti, Alessia Adorni, Paola Mozzoni, Vera Uliana, Antonio Percesepe
Published online: June 2018
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Wei Zhang, Huw R Morris
Published online: June 2018
Glycosylation and Disease
Miriam Dwek, Anatoliy Markiv
Published online: June 2018
Molecular Genetics of Essential Tremor
Gabrielle Houle, Patrick A Dion, Guy A Rouleau
Published online: June 2018
Genetics of the Retinal Dystrophies
Solomon S Merepa, Suzanne Broadgate, Sumathi Sekaran, Stephanie Halford
Published online: June 2018
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: May 2018
Cystathionine β‐Synthase (CBS) Deficiency: Genetics
Viktor Kožich, Jan P Kraus, Tomas Majtan
Published online: May 2018
Heat Shock Protein 47 (HSP47)
Fatin Hazwani Ibrahim, Normala Abd Latip, Mohd Firdaus Abdul‐Wahab
Published online: April 2018
Haemostasis: General Pathways
Alessandra Balduini, Cesare Balduini
Published online: April 2018
Nonsense Mutations Causing Inherited Diseases: Therapeutic Approaches
Laure Bidou, Valérie Allamand
Published online: April 2018
Dominance and Recessivity
Andrew OM Wilkie
Published online: April 2018
Blood Groups: Molecular Genetic Basis
Neil D Avent
Published online: March 2018
Molecular Genetics of Basal Cell Naevus Syndrome
Ann M John, Robert A Schwartz
Published online: March 2018
Molecular Genetics of Vascular Malformations
Angela Queisser, Laurence M Boon, Miikka Vikkula
Published online: March 2018
Cornification Diseases (Skin Cell Death)
Eleonora Candi, William Henry Irwin McLean, Biagio Didona, Alessandro Terrinoni, Artem Smirnov, Gerry Melino
Published online: March 2018
Titin Gene (TTN): Description of the Gene Coding for Titin, a Giant Protein of Critical Importance for Myofibrillar Integrity and Elasticity in Vertebrate Striated Muscle
Siegfried Labeit, Dittmar Labeit, Henk Granzier
Published online: February 2018
DNA Helicase Deficiency Disorders
Julia M Sidorova, Raymond J Monnat Jr
Published online: February 2018
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