Article
A non-functional galanin receptor-2 in a multiple sclerosis patient.
The pharmacogenomics journal - 1 Feb 2019
Garcia-Rosa Sheila, Trivella Daniela Bb, Marques Vanessa D, Serafim Rodolfo B, Pereira José Gc, Lorenzi Julio Cc, Molfetta Greice A, Christo Paulo P, Olival Guilherme S, Marchitto Vania Bt, Brum Doralina G, Sabedot Thais S, Noushmehr Houtan, Farias Alessandro S, Santos Leonilda Mb, Nogueira-Machado José A, Souza Jorge Es, Romano Camila M, Conde Rodrigo M, Santos Antonio C, Guerreiro Carlos T, Schreuder Willem H, Gleber-Netto Frederico O, Amorim Maria, Valieris Renan, Silva Israel Tojal da, Silva Wilson A, Nunes Diana N, Oliveira Paulo Sl, Valente Valeria, Arruda Maria Augusta, Hill Stephen J, Barreira Amilton A, Dias-Neto Emmanuel
Abstract excerpt
Multiple Sclerosis (MS) is an inflammatory neurodegenerative disease that affects approximately 2.5 million people globally. Even though the etiology of MS remains unknown, it is accepted that it involves a combination of genetic alterations and environmental factors. Here, after performing whole exome sequencing, we found a MS patient harboring a rare and homozygous single nucleotide variant (SNV; rs61745847) of...
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