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The American Journal of Human Genetics, ISSN 0002-9297, 2002, Volume 70, Issue 2, pp. 358 - 368
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival motor neuron gene 1 (SMN1).... 
SURVIVAL | PROTEIN | GENOTYPE | SMA | GENETICS & HEREDITY | PHENOTYPE | CLASSIFICATION | IDENTIFICATION | GENE COPY NUMBER | SINGLE NUCLEOTIDE | DELETION | Genetic aspects | Research | Human genetics | Spinal muscular atrophy
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 2, p. e17067
Journal Article
Monatsschrift Kinderheilkunde, ISSN 0026-9298, 12/2015, Volume 163, Issue 12, p. 1293
Die spinale Muskelatrophie (SMA) ist eine der haufigsten "seltenen" neuromuskularen Erkrankungen sie wird autosomal-rezessiv vererbt und stellt die haufigste... 
Patient outcomes | Infants | Diagnosis | Spinal muscular atrophy
Journal Article
Molecular Therapy, ISSN 1525-0016, 02/2015, Volume 23, Issue 2, pp. 270 - 277
Journal Article