NovelABCA12missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma-Reference-Cited by-同舟云学术

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NovelABCA12missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma

Published:2013-05-19 Issue:7 Volume:40 Page:581-582
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Shimizu Yoshitaka,Sugiura Kazumitsu¹,Aoyama Yumi²,Ogawa Yasushi¹,Hitomi Kiyotaka³,Iwatsuki Keiji²,Akiyama Masashi¹

Affiliation:

1. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya; Japan

2. Department of Dermatology; Okayama University Graduate School of Medicine; Okayama; Japan

3. Department of Basal Medicinal Sciences; Nagoya University Graduate School of Pharmaceutical Sciences; Nagoya; Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Reference5 articles.

1. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts;Akiyama;Hum Mutat,2010

2. Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis;Takeichi;J Dermatol Sci,2013

3. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2;Lefevre;Hum Mol Genet,2003

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

5. ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma;Sakai;J Invest Dermatol,2009

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation;The Journal of Dermatology;2021-12-13

2. Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients;Diagnostics;2020-11-24

3. Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient;Pediatric Investigation;2020-03

4. 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

5. Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window;European Journal of Dermatology;2019-01

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