A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia, E; Clermont, O; Tizzano, E; Lefebvre, S; Bürglen, L; Cruaud, C; Urtizberea, J A; Colomer, J; Munnich, A; Baiget, M

Bussaglia, E; Clermont, O; Tizzano, E; Lefebvre, S; Bürglen, L; Cruaud, C; Urtizberea, J A; Colomer, J; Munnich, A; Baiget, M.

Affiliation

Bussaglia E; Molecular Genetics Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.

Nat Genet ; 11(3): 335-7, 1995 Nov.

Article in En | MEDLINE | ID: mdl-7581461

Subject(s)

Frameshift Mutation; Muscular Atrophy, Spinal/genetics; Nerve Tissue Proteins/genetics; Sequence Deletion; Base Sequence; Cyclic AMP Response Element-Binding Protein; Gene Conversion; Humans; Molecular Sequence Data; Muscular Atrophy, Spinal/classification; Pedigree; Polymorphism, Single-Stranded Conformational; RNA-Binding Proteins; SMN Complex Proteins; Sequence Analysis, DNA; Spain

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Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Frameshift Mutation / Sequence Deletion / Nerve Tissue Proteins Limits: Humans Country/Region as subject: Europa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1995 Type: Article Affiliation country: Spain

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