Unusual molecular findings in autosomal recessive spinal muscular atrophy.

All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allo...

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Bibliografische gegevens
Hoofdauteurs: Matthijs, G, Schollen, E, Legius, E, Devriendt, K, Goemans, N, Kayserili, H, Apäk, M Y, Cassiman, J J
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1996
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050632/
https://ncbi.nlm.nih.gov/pubmed/8782046
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