A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Eggermann, Thomas

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. [electronic resource] - Neuromuscular disorders : NMD Feb 2008 - 146-9 p. digital

Publication Type: Case Reports; Journal Article

0960-8966

10.1016/j.nmd.2007.10.003 doi


Cyclic AMP Response Element-Binding Protein--genetics
Fatal Outcome
Genetic Testing--methods
Humans
Infant
Male
Muscular Atrophy, Spinal--diagnosis
Nerve Tissue Proteins--genetics
Point Mutation
RNA Splicing--genetics
RNA-Binding Proteins--genetics
Reproducibility of Results
Reverse Transcriptase Polymerase Chain Reaction--standards
SMN Complex Proteins
Survival of Motor Neuron 1 Protein