(Q57083813)

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Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects

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scholarly article

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Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects (English)

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autosomal recessive congenital ichthyosis

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object named as

L. Fachal

3

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Ángel Carracedo

object named as

A. Carracedo

5

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author name string

L. Rodríguez-Pazos

1

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M. Ginarte

2

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J. Toribio

4

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A. Vega

6

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publication date

4 August 2011

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British Journal of Dermatology

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165

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4

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906-911

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The genetics of ichthyosis: a primer for epidemiologists

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

mtDNA analysis of the Galician population: a genetic edge of European variation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10454.X

21 January 2018

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10.1111/J.1365-2133.2011.10454.X

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