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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Bernal, S; Alías, L; Barceló, M J; Also-Rallo, E; Martínez-Hernández, R; Gámez, J; Guillén-Navarro, E; Rosell, J; Hernando, I; Rodríguez-Alvarez, F J; Borrego, S; Millán, J M; Hernández-Chico, C; Baiget, M; Fuentes-Prior, P; Tizzano, E F.
J Med Genet ; 47(9): 640-2, 2010 Sep.
Article in En | MEDLINE | ID: mdl-20577007
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phylogeny / Muscular Atrophy, Spinal / Survival of Motor Neuron 2 Protein / Mutation Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2010 Document type: Article Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phylogeny / Muscular Atrophy, Spinal / Survival of Motor Neuron 2 Protein / Mutation Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2010 Document type: Article Country of publication: Reino Unido