(PDF) Novel Transglutaminase 1 Mutations in Patients

Novel Transglutaminase 1 Mutations in Patients Affected by Lamellar Ichthyosis

Cell Death and Disease - United Kingdom

doi 10.1038/cddis.2012.152

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Date

October 1, 2012

Authors

M Annicchiarico-Petruzzelli

G Zambruno

G Melino

E Candi

Publisher

Springer Science and Business Media LLC

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Novel Transglutaminase 1 Mutations in Patients Affected by Lamellar Ichthyosis

Cell Death and Disease - United Kingdom

doi 10.1038/cddis.2012.152

Full Text

Abstract

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Date

Authors

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Related search

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

Lamellar Ichthyosis

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

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

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

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