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Spinal Muscular Atrophy (SMA) - Muscular Dystrophy Association Spinal muscular atrophy (SMA) types 1 through 4 all result from a single known cause — a deficiency of a protein called SMN, which stands for " survival of motor neuron " Deficiency of SMN protein occurs when a mutation (flaw) is present in both copies of the SMN1 gene — one on each chromosome 5
SMN1 gene: MedlinePlus Genetics The SMN protein is found throughout the body, with highest levels in the spinal cord This protein is one of a group of proteins called the SMN complex, which is important for the maintenance of specialized nerve cells called motor neurons
Understanding the Smn1 gene and its role in spinal muscular atrophy Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by the progressive degeneration of motor neurons, leading to muscle weakness and atrophy The Smn1 gene consists of multiple exons and introns
Spinal Muscular Atrophy | Newborn Screening Motor neurons need the survival motor neuron (SMN) protein to work correctly In SMA, your baby’s body cannot make enough SMN protein When a baby cannot make enough SMN protein, motor neurons die, damaging the connection between the brain and the muscles
Smn Holdings, L. L. C. · 522 W Riverside Ave Ste 430, Spokane, WA 99201 SMN HOLDINGS, L L C is a business entity in Spokane, Washington registered with the Secretary of State of Washington State The Unified Business Identifier (UBI) of the entity is #602029726, the entity type is Wa Limited Liability Company and the business category is Limited Liability Regular