| ［1］ |
杨舟, 徐哲, 马琳. 自我改善型火棉胶鱼鳞病三家系12R⁃脂氧合酶基因突变分析［J］. 中华皮肤科杂志, 2021,54（5）:397⁃401. doi:10.35541/cjd.20200891.
|
| ［2］ |
Hotz A, Kopp J, Bourrat E, et al. Meta⁃analysis of mutations in ALOX12B or ALOXE3 identified in a large cohort of 224 patients［J］. Genes （Basel）, 2021,12（1）. doi: 10.3390/genes12010080.
|
| ［3］ |
Zheng Y, Yin H, Boeglin WE, et al. Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega⁃hydroxyceramide for construction of the corneocyte lipid envelope［J］. J Biol Chem, 2011,286（27）:24046⁃24056. doi: 10.1074/jbc.M111.251496.
|
| ［4］ |
Herman ML, Farasat S, Steinbach PJ, et al. Transglutaminase⁃1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations （including 23 novel） and modeling of TGase⁃1［J］. Hum Mutat, 2009,30（4）:537⁃547. doi: 10.1002/humu.20952.
|
| ［5］ |
Kurban M, Shimomura Y, Bahhady R, et al. Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family［J］. J Eur Acad Dermatol Venereol, 2010,24（2）:232⁃234. doi: 10.1111/j.1468⁃3083.2009. 03381.x.
|
| ［6］ |
Simpson JK, Martinez⁃Queipo M, Onoufriadis A, et al. Genotype⁃phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis［J］. Br J Dermatol, 2020,182（3）:729⁃737. doi: 10.1111/bjd.18211.
|
| ［7］ |
Virolainen E, Wessman M, Hovatta I, et al. Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1⁃p13.2［J］. Am J Hum Genet, 2000,66（3）:1132⁃1137. doi: 10.1086/302813.
|
| ［8］ |
Dahlqvist J, Klar J, Hausser I, et al. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis［J］. J Med Genet, 2007,44（10）:615⁃620. doi: 10.1136/jmg.2007.050542.
|
