Eggermann, Thomas

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