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Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study

Individuals who suffer from spinal muscular atrophy (SMA) exhibit progressive muscle weakness that frequently results in mortality in the most severe forms of the disease. In 98% of cases, there is a homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and both parents carry the same h...

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Vydáno v:Exp Ther Med
Hlavní autoři: CONTRERAS-CAPETILLO, SILVINA NOEMI, BLANCO, HUGO LEONID GALLARDO, CERDA-FLORES, RICARDO MARTIN, LUGO-TRAMPE, JOSÉ, TORRES-MUÑOZ, IRIS, BRAVO-ORO, ANTONIO, ESMER, CARMEN, DE VILLARREAL, LAURA ELLA MARTÍNEZ
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4473530/
https://ncbi.nlm.nih.gov/pubmed/26136935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2015.2436
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