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pro vyhledávání: '"Aida Jiménez‐Xifra"'
Autor:
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2