False Negative Carrier Screening in Spinal Muscular Atrophy.

Butcher, Sophie

False Negative Carrier Screening in Spinal Muscular Atrophy. [electronic resource] - Journal of child neurology 03 2020 - 274-277 p. digital

Publication Type: Case Reports; Journal Article

1708-8283

10.1177/0883073819891269 doi


False Negative Reactions
Female
Genetic Testing--methods
Humans
Infant
Muscular Atrophy, Spinal--diagnosis
Oligonucleotides--therapeutic use
Survival of Motor Neuron 1 Protein--genetics