TY  - GEN
AU  - Eggermann,Thomas
AU  - Eggermann,Katja
AU  - Elbracht,Miriam
AU  - Zerres,Klaus
AU  - Rudnik-Schöneborn,Sabine
TI  - A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches
SN  - 0960-8966
PY  - 2008///0609
KW  - Cyclic AMP Response Element-Binding Protein
KW  - genetics
KW  - Fatal Outcome
KW  - Genetic Testing
KW  - methods
KW  - Humans
KW  - Infant
KW  - Male
KW  - Muscular Atrophy, Spinal
KW  - diagnosis
KW  - Nerve Tissue Proteins
KW  - Point Mutation
KW  - RNA Splicing
KW  - RNA-Binding Proteins
KW  - Reproducibility of Results
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - standards
KW  - SMN Complex Proteins
KW  - Survival of Motor Neuron 1 Protein
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2007.10.003
ER  -