Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients
✍ Scribed by H. Erdem; S. Pehlivan; H. Topaloğlu; D. Yalnizoğlu; Z. Akçören
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 422 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0141-8955
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The molecular genetic diagnosis of spinal muscular atrophy (SMA) has recently been complicated by the identification of two candidate genes, which are often deleted in affected individuals but are also occasionally deleted in apparently unaffected carriers. We present a compilation of genotypes, fro
## Abstract The hereditary neurodegenerative disease spinal muscular atrophy (SMA) with childhood onset is one of the most common genetic causes of infant mortality. The disease is characterized by selective loss of spinal cord motor neurons leading to muscle atrophy and is the result of mutations