TY  - GEN
AU  - Parsons,D W
AU  - McAndrew,P E
AU  - Allinson,P S
AU  - Parker,W D
AU  - Burghes,A H
AU  - Prior,T W
TI  - Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis
SN  - 0022-2593
PY  - 1998///1113
KW  - Cyclic AMP Response Element-Binding Protein
KW  - DNA Mutational Analysis
KW  - Gene Deletion
KW  - Genetic Testing
KW  - Humans
KW  - Infant
KW  - Male
KW  - Nerve Tissue Proteins
KW  - genetics
KW  - Nucleic Acid Heteroduplexes
KW  - Polymerase Chain Reaction
KW  - RNA-Binding Proteins
KW  - SMN Complex Proteins
KW  - Spinal Muscular Atrophies of Childhood
KW  - diagnosis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.35.8.674
ER  -