Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Mai Tsukikawa
Novel ABCA4 Mutation Leads to Loss of a Conserved C-Terminal Motif: Implications for Predicting Pathogenicity Based on Genetic Testing
European Journal of Ophthalmology
Medicine
Ophthalmology
Related publications
Pathogenicity of C-Terminal Mutations in CDKL5
Journal of Pediatric Epilepsy
A C-Terminal Nonsense Mutation Links PTPRQ With Autosomal-Dominant Hearing Loss, DFNA73
Genetics in Medicine
Medicine
Genetics
Phosphorylation at Conserved Carboxyl-Terminal Hydrophobic Motif Regulates the Catalytic and Regulatory Domains of Protein Kinase C
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
A Report of a National Mutation Testing Service for the MEN1 Gene: Clinical Presentations and Implications for Mutation Testing
Journal of Medical Genetics
Genetics
Correction: A Conserved Interaction Between a C-Terminal Motif in Norovirus VPg and the HEAT-1 Domain of eIF4G Is Essential for Translation Initiation
PLoS Pathogens
Immunology
Molecular Biology
Virology
Microbiology
Parasitology
Genetics
A Novel Loss-Of-Function Mutation in HACE1 Is Linked to a Genetic Disorder in a Patient From India
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
A Novel Mutation in the TM6 Domain of GABBR2 Leads to a Rett-Like Phenotype
Annals of Neurology
Neurology
A Pseudogene for a Novel Ubiquitin C-Terminal Hydrolase ofS.cerevisiae
Nucleic Acids Research
Genetics
Pheochromocytoma Due to TMEM127 Mutation – The Importance of Genetic Testing for Clinical Decision
European Endocrinology
Endocrine
Endocrinology
Metabolism
Autonomic Systems
Diabetes
