TY  - GEN
AU  - McAndrew,P E
AU  - Parsons,D W
AU  - Simard,L R
AU  - Rochette,C
AU  - Ray,P N
AU  - Mendell,J R
AU  - Prior,T W
AU  - Burghes,A H
TI  - Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
SN  - 0002-9297
PY  - 1997///0710
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 5
KW  - Cloning, Molecular
KW  - Cyclic AMP Response Element-Binding Protein
KW  - Cystic Fibrosis Transmembrane Conductance Regulator
KW  - genetics
KW  - DNA
KW  - blood
KW  - DNA Primers
KW  - Exons
KW  - Female
KW  - Gene Dosage
KW  - Genetic Carrier Screening
KW  - Humans
KW  - Male
KW  - Motor Neurons
KW  - pathology
KW  - Muscular Atrophy, Spinal
KW  - diagnosis
KW  - Nerve Tissue Proteins
KW  - Nucleic Acid Heteroduplexes
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - RNA-Binding Proteins
KW  - Risk Assessment
KW  - SMN Complex Proteins
KW  - Spinal Cord
KW  - Survival of Motor Neuron 1 Protein
KW  - Survival of Motor Neuron 2 Protein
KW  - Transcription, Genetic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/515465
ER  -