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