(Q39031114)

8 September 2017

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis (English)

1 reference

autosomal recessive congenital ichthyosis

8 September 2017

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O Ortega-Recalde

1

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author name string

M B Moreno

2

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8 September 2017

J I Vergara

3

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8 September 2017

D J Fonseca

4

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8 September 2017

R F Rojas

5

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8 September 2017

H Mosquera

6

1 reference

8 September 2017

C L Medina

7

1 reference

8 September 2017

C M Restrepo

8

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8 September 2017

P Laissue

9

1 reference

8 September 2017

9 March 2015

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Clinical and Experimental Dermatology

8 September 2017

1 reference

8 September 2017

40

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8 September 2017

7

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8 September 2017

757-760

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

8 September 2017

1 reference

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

21 January 2018

1 reference

A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation

21 January 2018

1 reference

Transglutaminase function in epidermis

21 January 2018

1 reference

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1

21 January 2018

1 reference

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CED.12627

1 reference

8 September 2017

1 reference