Search Results - "Van Amerongen, Geneviève"

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    Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy by Ravard-Goulvestre, C, Boucly, C, Mathieu, B, Van Amerongen, G, Viollet, L, Estournet, B, Barois, A, de Mazancourt, P

    Published in Clinical chemistry and laboratory medicine (01-02-1999)
    “…The SMN1 gene is homozygously deleted for at least exon 7, interrupted or converted to a non-functional telomeric copy in most cases of proximal spinal…”
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