McAndrew, P E

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