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Publications by Sanae Numata
Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Paternal Transmission and Slow Elimination of Mutant Alleles Associated With Late-Onset Ornithine Transcarbamylase Deficiency in Male Patients
Journal of Human Genetics
Genetics
Related publications
Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes
European Journal of Human Genetics
Genetics
Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population
American Journal of Human Genetics
Genetics
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
American Journal of Human Genetics
Genetics
Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Calpain 12 Function Revealed Through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology
Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA
Journal of Medical Genetics
Genetics
A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Journal of Integrative Cardiology
Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders
Journal of the American Academy of Dermatology
Dermatology
379 KB105: An HSV-based Gene Therapy Vector Engineered to Deliver Functional TGM1 to Autosomal Recessive Congenital Ichthyosis (ARCI) Keratinocytes
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology