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Author Report for: Espinos C

No contact information in database for Espinos C

    Title: Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
    Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T
    Ref: Journal of Neurology Sci, 387:134, 2018 : PubMed


    Title: Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
    Sevilla T, Martinez-Rubio D, Marquez C, Paradas C, Colomer J, Jaijo T, Millan J, Palau F, Espinos C, Millan JM
    Ref: Clin Genet, 83:565, 2013 : PubMed


    Title: The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
    Claramunt R, Sevilla T, Lupo V, Cuesta A, Millan JM, Vilchez JJ, Palau F, Espinos C
    Ref: Clin Genet, 71:343, 2007 : PubMed


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