(Q30952708)

27 June 2017

title

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis (English)

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autosomal recessive congenital ichthyosis

27 June 2017

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congenital ichthyosiform erythroderma

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cell surface receptor

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Mark Lathrop

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27 June 2017

Florence Jobard

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27 June 2017

Bakar Bouadjar

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27 June 2017

Caroline Lefèvre

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27 June 2017

Aysen Karaduman

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27 June 2017

Safa Saker

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27 June 2017

Meral Ozguc

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27 June 2017

Jean-François Prud'homme

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27 June 2017

Judith Fischer

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27 June 2017

publication date

18 August 2004

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27 June 2017

published in

Human Molecular Genetics

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27 June 2017

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27 June 2017

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27 June 2017

page(s)

2473-2482

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

27 June 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

SOSUI: classification and secondary structure prediction system for membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Nucleotide sequence and genetic analysis of a 13.1-kilobase-pair Pseudomonas denitrificans DNA fragment containing five cob genes and identification of structural genes encoding Cob(I)alamin adenosyltransferase, cobyric acid synthase, and bifunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

The ins and outs of presenilin 1 membrane topology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Prostaglandins and leukotrienes: advances in eicosanoid biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Drug discovery: a historical perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

Properties of N-terminal tails in G-protein coupled receptors: a statistical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH263

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH263

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27 June 2017

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