Spinal muscular atrophy diagnostics

Journal of Child Neurology

Volumn 22, Issue 8, 2007, Pages 952-956

  Prior, Thomas W ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

Gene dosage testing; SMN1 gene; SMN2 gene; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE DOSAGE; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; OLIGOMERIZATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

CHILD; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 34548149015     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807305668     Document Type: Article

References (18)

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