Literature DB >> 31486100

Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.

J Al-Hage1, O Abbas1, G Nemer2, M Kurban1,2,3.   

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Year:  2019        PMID： 31486100     DOI： 10.1111/ced.14062

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


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  2 in total

Review 1.  CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

Authors:  Liqing Yu; Yi Li; Alison Grisé; Huan Wang
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

2.  Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Authors:  Bo Liang; He Huang; Jiaxiang Zhang; Gang Chen; Xiangsheng Kong; Mengting Zhu; Peiguang Wang; Lili Tang
Journal:  Front Genet       Date:  2022-03-28       Impact factor: 4.599
  2 in total

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