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Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations |
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| Authors: | Yolanda Martín Ana Valero Emilia del Castillo Samuel I Pascual Concepción Hernández-Chico |
| Institution: | Unidad de Genética Molecular, Hospital Ramón y Cajal, Crta. Colmenar Km. 9,1, 28034 Madrid, Spain. |
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