Moutou, Céline

Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene. [electronic resource] - Prenatal diagnosis Nov 2006 - 1037-41 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0197-3851

10.1002/pd.1551 doi


Adult
Cyclic AMP Response Element-Binding Protein--genetics
Female
Genotype
Humans
Male
Muscular Atrophy, Spinal--diagnosis
Mutation
Nerve Tissue Proteins--genetics
Pedigree
Polymerase Chain Reaction
Pregnancy
Preimplantation Diagnosis--methods
Prenatal Diagnosis
RNA-Binding Proteins--genetics
SMN Complex Proteins
Survival of Motor Neuron 1 Protein