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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

✍ Scribed by Eva Zapletalová; Petra Hedvičáková; Libor Kozák; Petr Vondráček; Renata Gaillyová; Tat’ána Mařı´ková; Zdeněk Kalina; Věra Jüttnerová; Jiřı´ Fajkus; Lenka Fajkusová


Book ID
116792821
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
90 KB
Volume
17
Category
Article
ISSN
0960-8966

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Molecular analysis of SMA patients witho
✍ Olivier Clermont; Philippe Burlet; Paule Benit; Dominique Chanterau; Pascale Sau 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB

Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found. Compound heterozygous patients, who have an SMN1 deletion associated with a subtle mutation, appear undeleted