Importance of standard nomenclature for SMN1 small intragenic (“subtle”) mutations

Molecular analysis of SMA patients witho

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

✍ 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