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Paper Report for: Durdu_2018_BMC.Med.Genet_19_88

Reference

Title: Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
Durdu M, Missaglia S, Moro L, Tavian D
Ref: BMC Med Genet, 19:88, 2018 : PubMed

        



Related information

Gene_Locus| human-ABHD5
Mutation | R199QfsX10_human-ABHD5,



Citations formats

Durdu M, Missaglia S, Moro L, Tavian D (2018)
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
BMC Med Genet 19: 88

Durdu M, Missaglia S, Moro L, Tavian D (2018)
BMC Med Genet 19: 88



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