Article
Genetic studies to characterize the origin of the mutation in placental aromatase deficiency.
American journal of human genetics - 1 Sept 1992
Harada N, Ogawa H, Shozu M, Yamada K
Abstract excerpt
Placental aromatase deficiency has recently been shown to be due to expression of RNA transcripts encoding abnormal aromatase molecules with 29 extra amino acids. To establish whether this aromatase deficiency is a hereditary or sporadic disease, we examined the genetic defect of the aromatase ge...
Topics
- Aromatase
- Base Sequence
- Cloning, Molecular
- Exons
- Female
- Humans
- Infant
- Introns
- Male
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Placenta
- Polymerase Chain Reaction