A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene (original) (raw)
Related papers
Reports of Biochemistry and Molecular Biology, 2021
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Frontiers in Physiology, 2016
Abstracts for the Human Genetics Society of Australasia Virtual Conference 24–25 November 2020
Twin Research and Human Genetics, 2021
Mutations in DSTYK and Dominant Urinary Tract Malformations
New England Journal of Medicine, 2013
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes
American Journal of Medical Genetics Part A
Molecular genetics of Dravet syndrome
Developmental Medicine & Child Neurology, 2011
Defining functional classes of Barth syndrome mutation in humans
Human Molecular Genetics, 2016
Structuring the Review of Human Genetics Protocols Part II: Diagnostic and Screening Studies
IRB: Ethics & Human Research, 1997
Clinical Genetics, 2011
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
Brain, 2013
The discovery of human genetic variations and their use as disease markers: past, present and future
Journal of Human Genetics, 2010
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome
Journal of Inherited Metabolic Disease, 2009
Functional genetic analysis of mutations implicated in a human speech and language disorder
Human Molecular Genetics, 2006
Genetic Compensation in a Human Genomic Disorder
New England Journal of Medicine, 2009
The American Journal of Human Genetics, 2016
Human Genetics, 2016
The American Journal of Human Genetics, 2011
HD Phenocopies—Possible Role of Saitohin Gene
International Journal of Neuroscience, 2008
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
The American Journal of Human Genetics, 2007
A new mutation associated with Pierson syndrome
Archivos Argentinos de Pediatria, 2020
Human Molecular Genetics, 2009
Identification of novel candidate disease genes from de novo exonic copy number variants
Genome Medicine, 2017
Bovolenta et al. Human Mutation Mar;33(3):572-81. doi: 10.1002/humu.22017
Identification of the genetic causes of orphan diseases
2013
Molecular Convergence of Neurodevelopmental Disorders
The American Journal of Human Genetics, 2014