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Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

✍ Scribed by Nadia Passon; Giorgia Dubsky de Wittenau; Irena Jurman; Slobodanka Radovic; Elisa Bregant; Cristiano Molinis; Giuseppe Damante; Incoronata Renata Lonigro

Book ID
116736073
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
424 KB
Volume
24
Category
Article
ISSN
0890-8508

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Determination of SMN1 and SMN2 copy numb
Determination of SMN1 and SMN2 copy number using TaqManβ„’ technology
✍ Dirk Anhuf; Thomas Eggermann; Sabine Rudnik-SchΓΆneborn; Klaus Zerres πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 112 KB

Infantile spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of the SMN1 gene in more than 90% of patients. Identification of carriers for the SMN1 deletion is important for diagnostic purposes and for genetic counseling. The current practical implications of SMN2