(PDF) NIPAL4 Deletion Identified in an American Bully With

NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

Veterinary Medicine and Science - United Kingdom

doi 10.1002/vms3.149

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Date

February 11, 2019

Authors

Amaury Briand

Noelle Cochet‐Faivre

Edouard Reyes‐Gomez

Ambre Jaraud‐Darnault

Laurent Tiret

Lucie Chevallier

Publisher

Wiley

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NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

Veterinary Medicine and Science - United Kingdom

doi 10.1002/vms3.149

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

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

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

379 KB105: An HSV-based Gene Therapy Vector Engineered to Deliver Functional TGM1 to Autosomal Recessive Congenital Ichthyosis (ARCI) Keratinocytes

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

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

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

Calpain 12 Function Revealed Through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

383 Preclinical Safety and Pharmacology of KB105, an HSV-based Gene Therapy Vector for the Treatment of Autosomal Recessive Congenital Ichthyosis (ARCI)