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De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder. We have identified de novo rearrangements in 7 (approximately 2%) index patients from 340 informative SMA families. In each, the rearrangements resulted in the absence of the telomeric copy of the surviv...

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Bibliographische Detailangaben
Hauptverfasser: Wirth, B, Schmidt, T, Hahnen, E, Rudnik-Schöneborn, S, Krawczak, M, Müller-Myhsok, B, Schönling, J, Zerres, K
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1997
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716038/
https://ncbi.nlm.nih.gov/pubmed/9345102
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