TY  - GEN
AU  - Parsons,D W
AU  - McAndrew,P E
AU  - Monani,U R
AU  - Mendell,J R
AU  - Burghes,A H
AU  - Prior,T W
TI  - An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene
SN  - 0964-6906
PY  - 1997///0311
KW  - Alleles
KW  - Cyclic AMP Response Element-Binding Protein
KW  - Exons
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Gene Dosage
KW  - Humans
KW  - Infant
KW  - Male
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Polymorphism, Single-Stranded Conformational
KW  - RNA, Messenger
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; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/5.11.1727
ER  -