## Abstract A total of 52 SNPs reported to be polymorphic in European, Asian and African populations were selected. Of these, 42 were from the distal regions of each autosome (except chromosome 19). Nearly all selected SNPs were located at least 100 kb distant from known genes and commonly used STR
✦ LIBER ✦
A new multiplex for human identification using insertion/deletion polymorphisms
✍ Scribed by Rui Pereira; Christopher Phillips; Cíntia Alves; António Amorim; Ángel Carracedo; Leonor Gusmão
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 299 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0173-0835
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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