TY  - GEN
AU  - Mailman,Matthew D
AU  - Heinz,John W
AU  - Papp,Audrey C
AU  - Snyder,Pamela J
AU  - Sedra,Mary S
AU  - Wirth,Brunhilde
AU  - Burghes,Arthur H M
AU  - Prior,Thomas W
TI  - Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
SN  - 1098-3600
PY  - 2002///0422
KW  - Alleles
KW  - Cyclic AMP Response Element-Binding Protein
KW  - Female
KW  - Genetic Carrier Screening
KW  - Genetic Testing
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - genetics
KW  - Phenotype
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; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1097/00125817-200201000-00004
ER  -