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Publications by T Fukao
Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.
Journal of Clinical Investigation
Medicine
Related publications
A Novel Splice-Site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Turkish Patient
Balkan Journal of Medical Genetics
Genetics
Ab Initio Prediction of Mutation-Induced Cryptic Splice-Site Activation and Exon Skipping
European Journal of Human Genetics
Genetics
A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia
American Journal of Medical Genetics, Part A
Genetics
GT to AT Transition at a Splice Donor Site Causes Skipping of the Preceding Exon in Phenylketonuria
Nucleic Acids Research
Genetics
Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site
Journal of Allergy and Clinical Immunology
Allergy
Immunology
A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment
PLoS ONE
Multidisciplinary
Exon Skipping Through the Creation of a Putative Exonic Splicing Silencer as a Consequence of the Cystic Fibrosis Mutation R553X
Journal of Medical Genetics
Genetics
A Mutation Hotspot at the P14ARF Splice Site
Oncogene
Cancer Research
Genetics
Molecular Biology
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
