A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

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A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

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im Mai 2015 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 18 May 2015

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2015

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A severe collodion phenotype i ...... us missense mutation inALOX12B

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A severe collodion phenotype i ...... us missense mutation inALOX12B

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A severe collodion phenotype i ...... us missense mutation inALOX12B

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A severe collodion phenotype i ...... us missense mutation inALOX12B

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A severe collodion phenotype i ...... us missense mutation inALOX12B

@en

A severe collodion phenotype i ...... us missense mutation inALOX12B

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P1476

A severe collodion phenotype i ...... s missense mutation in ALOX12B

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P2093

C Chronnell

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H Kayserili

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P J Bland

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P2860

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.

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285-287

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P31

scholarly article

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10.1111/BJD.13627

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English

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P478

173

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Vincent Plagnol

David P. Kelsell

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2015-05-18T00:00:00Z

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25524567

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