PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients
<p>Spinal Muscular Atrophy (SMA) is a lethal, autosomal recessive, neurodegenerative disorder characterized by progressive muscle weakness. SMA has an incidence of 1 in 6000-10000 live-births and a carrier frequency of 1:38-50 [1]. Previous reports describe genotype and frequency differences a...
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Journal of Neurology, Neurological Science and Disorders - Peertechz Publications,
2017-09-15.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_jnnsd_000021 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Pita Rodríguez M |e author |
| 700 | 1 | 0 | |a Zaldívar Vaillant T |e author |
| 700 | 1 | 0 | |a Zayas Guillot M |e author |
| 700 | 1 | 0 | |a Alvarez González MA |e author |
| 245 | 0 | 0 | |a PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients |
| 260 | |b Journal of Neurology, Neurological Science and Disorders - Peertechz Publications, |c 2017-09-15. | ||
| 520 | |a <p>Spinal Muscular Atrophy (SMA) is a lethal, autosomal recessive, neurodegenerative disorder characterized by progressive muscle weakness. SMA has an incidence of 1 in 6000-10000 live-births and a carrier frequency of 1:38-50 [1]. Previous reports describe genotype and frequency differences among ethnic groups [2,3]. In around 95% SMA results from the loss of SMN1 gene [4]. SMA can be classified into five clinical grades based on age of onset and severity. Cuba has a high degree of admixture [5], and previous studies in this population report a different SMN1homozygous deletion frequency [6], and skin color distribution of SMA I [2]. In this study, a molecular characterization of one hundred sixtythree patients was performed by PCR-RFLP methods regarding gender and skin color distribution.</p> | ||
| 540 | |a Copyright © Pita Rodríguez M et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Short Communication |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/jnnsd.000021 |z Connect to this object online. |