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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
Authors :
Instituto de Salud Carlos III Ministerio de Ciencia e Innovación (España) Fundació La Marató de TV3 CSIC - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA) Ximelis, Teresa [0000-0002-9634-1496] Marín-Moreno, Alba [0000-0002-4023-6398] Espinosa Martín, Juan Carlos [0000-0002-6719-9902] Eraña, Hasier [0000-0001-8776-4211] Charco, Jorge M. [0000-0003-3476-1855] Alcolea, Daniel [0000-0002-3819-3245] González-Roca, Eva [0000-0002-1126-0321] Aldecoa, Iban [0000-0001-5774-7453] Molina-Porcel, Laura [0000-0003-4068-8578] Parchi, Piero [0000-0002-9444-9524] Rossi, Marcello [0000-0002-8125-6571] Castilla, Joaquín [0000-0002-2216-1361] Ruiz-García, Raquel [0000-0002-8403-3613] Gelpi, Ellen [0000-0003-2948-4187] Torres, Juan María [0000-0003-0443-9232] Sánchez-Valle, Raquel [0000-0001-7750-896X] Ximelis, Teresa Marín-Moreno, Alba Espinosa Martín, Juan Carlos Eraña, Hasier Charco, Jorge M. Hernández, Isabel Riveira, Carmen Alcolea, Daniel González-Roca, Eva Aldecoa, Iban Molina-Porcel, Laura Parchi, Piero Rossi, Marcello Castilla, Joaquín Ruiz-García, Raquel Gelpi, Ellen Torres, Juan María Sánchez-Valle, Raquel Instituto de Salud Carlos III Ministerio de Ciencia e Innovación (España) Fundació La Marató de TV3 CSIC - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA) Ximelis, Teresa [0000-0002-9634-1496] Marín-Moreno, Alba [0000-0002-4023-6398] Espinosa Martín, Juan Carlos [0000-0002-6719-9902] Eraña, Hasier [0000-0001-8776-4211] Charco, Jorge M. [0000-0003-3476-1855] Alcolea, Daniel [0000-0002-3819-3245] González-Roca, Eva [0000-0002-1126-0321] Aldecoa, Iban [0000-0001-5774-7453] Molina-Porcel, Laura [0000-0003-4068-8578] Parchi, Piero [0000-0002-9444-9524] Rossi, Marcello [0000-0002-8125-6571] Castilla, Joaquín [0000-0002-2216-1361] Ruiz-García, Raquel [0000-0002-8403-3613] Gelpi, Ellen [0000-0003-2948-4187] Torres, Juan María [0000-0003-0443-9232] Sánchez-Valle, Raquel [0000-0001-7750-896X] Ximelis, Teresa Marín-Moreno, Alba Espinosa Martín, Juan Carlos Eraña, Hasier Charco, Jorge M. Hernández, Isabel Riveira, Carmen Alcolea, Daniel González-Roca, Eva Aldecoa, Iban Molina-Porcel, Laura Parchi, Piero Rossi, Marcello Castilla, Joaquín Ruiz-García, Raquel Gelpi, Ellen Torres, Juan María Sánchez-Valle, Raquel
Publication Year :
2021
Abstract
More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date.
Details
Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1348918091
Document Type :
Electronic Resource