Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia-Reference-Cited by-同舟云学术

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia

Published:2015-04 Issue:1 Volume:78 Page:82-85
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Numata Sanae,Teye Kwesi,Krol Rafal P.,Karashima Tadashi,Fukuda Shunpei,Matsuda Mitsuhiro,Ishii Norito,Furumura Minao,Ohata Chika,Saminathan Sasi D,Ariffin Roziana,Pramono Zacharias A D,Leong Kin Fon,Hamada Takahiro,Hashimoto Takashi

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma;Akiyama;Br J Dermatol,2001

2. Autosomal recessive congenital ichthyosis;Fischer;J Invest Dermatol,2009

3. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;Grall;Nat Genet,2012

4. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans;Radner;PLoS Genet,2013

5. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma;Fukuda;Br J Dermatol,2012

Cited by 7 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. High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”;European Journal of Medical Genetics;2023-10

2. Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy;Frontiers in Genetics;2022-08-08

3. Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report;Pharmacogenomics and Personalized Medicine;2022-06

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. Functional study ofTGM1missense mutations in autosomal recessive congenital ichthyosis;Experimental Dermatology;2016-06-15