TY  - GEN
AU  - Cobben,J M
AU  - de Visser,M
AU  - Scheffer,H
TI  - [From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy]
SN  - 0028-2162
PY  - 2002///0208
KW  - Adult
KW  - Child
KW  - Chromosomes, Human, Pair 5
KW  - Cyclic AMP Response Element-Binding Protein
KW  - DNA Mutational Analysis
KW  - Gene Expression
KW  - Genetic Carrier Screening
KW  - Homozygote
KW  - Humans
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - genetics
KW  - Netherlands
KW  - Phenotype
KW  - Prenatal Diagnosis
KW  - RNA-Binding Proteins
KW  - SMN Complex Proteins
KW  - Spinal Muscular Atrophies of Childhood
KW  - Survival of Motor Neuron 1 Protein
KW  - Survival of Motor Neuron 2 Protein
N1  - Publication Type: Journal Article; Review
ER  -