Mutational Mechanisms of Genetic Disease

Pub Date A-Z
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
Human Leucocyte Antigen (HLA) System and Human Disorders
James A Traherne
Published online: February 2018
Nonsense Mutations and Suppression
Muriel B Herrington
Published online: February 2018
Renal Carcinoma and von Hippel–Lindau Disease
Thomas M Connor, Patrick H Maxwell
Published online: January 2018
DNA Strand Break Repair and Human Genetic Disease
Tatiana García‐Muse, Andrés Aguilera
Published online: January 2018
Molecular Genetics of Emery–Dreifuss Muscular Dystrophy
Peter Meinke
Published online: January 2018
Non‐B DNA Structure and Mutations Causing Human Genetic Disease
Albino Bacolla, David N Cooper, Karen M Vasquez, John A Tainer
Published online: January 2018
Mutagenesis: Site‐Directed
Mari J Walquist, M Raafat El‐Gewely
Published online: January 2018
Ion Channels and Human Disorders
Dipa L Raja Rayan, Michael G Hanna
Published online: January 2018
Competitive and Covalent Inhibitors of Human Lysosomal Retaining Exoglucosidases
Imogen Z Breen, Marta Artola, Liang Wu, Thomas JM Beenakker, Wendy A Offen, Johannes MFG Aerts, Gideon J Davies, Herman S Overkleeft
Published online: January 2018
Molecular Genetics of Schwannomatosis
Theo JM Hulsebos
Published online: November 2017
Haploinsufficiency
Andrew P Read
Published online: November 2017
Dominant Traits and Diseases
Lynn B Jorde
Published online: November 2017
Genetics of X‐Linked Intellectual Disability
Małgorzata Z Lisik
Published online: November 2017
Molecular Genetics of Usher Syndrome: Current State of Understanding
Ralph WN Slijkerman, Hannie Kremer, Erwin van Wijk
Published online: November 2017
Protein Conformational Disease: Visit the Facts at a Glance
Yunhui Peng, Emil Alexov
Published online: November 2017
Pathogenetic Mechanisms in Alagille Syndrome
Roya Hakimjavadi, Abidemi Olayinka, Mariana Di Luca, Shaunta Guha, Dermot Walls, Eileen M Redmond, Paul A Cahill
Published online: November 2017
Molecular Genetics of the Paroxysmal Dyskinesias
Rauan Kaiyrzhanov, Henry Houlden
Published online: October 2017
Oxidative Phosphorylation System: Nuclear Genes and Genetic Disease
Laura Sánchez‐Caballero, Fabian Baertling, Leo Nijtmans, Jan AM Smeitink
Published online: October 2017
Thalassaemias
Deborah Hay, David J Weatherall
Published online: October 2017
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