Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: Epidermolysis Bullosa Simplex[original query] |
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A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. The Journal of investigative dermatology 2006 1 126 (1): 79-84. Richardson Elizabeth S, Lee Jason B, Hyde Patricia H, Richard Gabrie |
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. Journal of dermatological science 2010 1 57 (2): 90-4. Kang Tae-Won, Lee Jeong Seon, Kim Song-Ee, Oh Se-Woong, Kim Soo-Ch |
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. The British journal of dermatology 2011 Mar 164 (3): 637-44. Bolling M C, Lemmink H H, Jansen G H L, Jonkman M |
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. Journal of applied genetics 2015 Oct . Wertheim-Tysarowska K, O?dak M, Giza A, Kutkowska-Ka?mierczak A, Sota J, Przybylska D, Wo?niak K, ?niegórska D, Niepokój K, Sobczy?ska-Tomaszewska A, Rygiel A M, P?oski R, Bal J, Kowalewski |
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatric dermatology 2018 1 35 (2): 188-197. Lucky Anne W, Dagaonkar Neha, Lammers Karen, Husami Ammar, Kissell Diane, Zhang Keji |
Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Experimental and therapeutic medicine 2019 11 18 (6): 4661-4664. Zhang Jia, Ding Yu, Li Ming, Yao Zhirong, Zhuang Y |
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases. Acta dermato-venereologica 2021 5 101 (7): adv00503. Yu Yueqian, Wang Zhenzhen, Mi Zihao, Sun Lele, Fu Xi'an, Yu Gongqi, Pang Zheng, Liu Hong, Zhang Fur |
Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex. Frontiers in genetics 2021 11 12 729628. Xu Xiaojing, Zhao Juan, Wang Chao, Qu Xiaoxuan, Ran Menglong, Ye Fang, Shen Ming, Wang Kundi, Zhang |
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