Associated Papers
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S6
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Almazroea A et al.
Medicina (kaunas, Lithuania), 2023
36676727 (PubMed )
Supplement: medicina-59-00103-s001.zip › medicina-2007344-supplementary.xlsx › Reported_Variants_in_TGM1_Gene
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Marukian NV et al.
Jama Dermatology, 2017
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
28248968 (PubMed )
Supplement: pone.0172189.s003.pdf
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
Al-Naamani A et al.
Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2013
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.
Raghunath M et al.
The Journal of Investigative Dermatology, 2003
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
Cserhalmi-Friedman PB et al.
The British Journal of Dermatology, 2001
Select a paper to view details