Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene. [electronic resource]
- European journal of human genetics : EJHG Mar 2005
- 309-13 p. digital
Publication Type: Journal Article
1018-4813
10.1038/sj.ejhg.5201268 doi
Chromosomes, Human, Pair 5--genetics Cyclic AMP Response Element-Binding Protein--genetics Female Gene Deletion Genetic Carrier Screening--methods Genetic Counseling Heterozygote Humans Male Mosaicism Nerve Tissue Proteins--genetics Pedigree Polymerase Chain Reaction RNA-Binding Proteins--genetics SMN Complex Proteins Spinal Muscular Atrophies of Childhood--genetics Survival of Motor Neuron 1 Protein