Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma-Reference-Cited by-同舟云学术

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

Published:2011-09-29 Issue:1 Volume:166 Page:218-221
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Fukuda S.,Hamada T.,Ishii N.,Sakaguchi S.,Sakai K.,Akiyama M.,Shimizu H.,Masuda K.,Izu K.,Teye K.,Tsuruta D.,Karashima T.,Nakama T.,Yasumoto S.,Hashimoto T.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2011.10516.x/fullpdf

Reference9 articles.

1. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia;Natsuga;J Invest Dermatol,2007

2. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population;Laiho;Am J Hum Genet,1997

3. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1;Jobard;Hum Mol Genet,2002

4. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis;Lefèvre;Hum Mol Genet,2004

5. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3;Lefèvre;Hum Mol Genet,2006

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2. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations;Molecular Genetics & Genomic Medicine;2019-03-27

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4. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications;Journal of Dermatological Science;2018-09

5. Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations;The Journal of Dermatology;2018-05-03