Article
Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.
Prenatal diagnosis - 1 Aug 2002
Savas S, Eraslan S, Kantarci S, Karaman B, Acarsoz D, Tükel T, Cogulu O, Ozkinay F, Basaran S, Aydinli K, Yuksel-Apak M, Kirdar B
Abstract excerpt
Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion...
Topics
- Cyclic AMP Response Element-Binding Protein
- DNA Restriction Enzymes
- Exons
- Female
- Gene Deletion
- Genotype
- Homozygote
- Humans
- Nerve Tissue Proteins
- Neuronal Apoptosis-Inhibitory Protein
- Phenotype
- Pregnancy
- Prenatal Diagnosis