Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. [electronic resource]
- American journal of human genetics Jun 1997
- 1411-22 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/515465 doi
Amino Acid Sequence Base Sequence Chromosome Mapping Chromosomes, Human, Pair 5 Cloning, Molecular Cyclic AMP Response Element-Binding Protein Cystic Fibrosis Transmembrane Conductance Regulator--genetics DNA--blood DNA Primers Exons Female Gene Dosage Genetic Carrier Screening Humans Male Motor Neurons--pathology Muscular Atrophy, Spinal--diagnosis Nerve Tissue Proteins--genetics Nucleic Acid Heteroduplexes--genetics Pedigree Polymerase Chain Reaction RNA-Binding Proteins Risk Assessment SMN Complex Proteins Spinal Cord--pathology Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein Transcription, Genetic