Article
[Familial form of partial androgen insensitivity (Reifenstein syndrome): arginine-histidine mutation in position 840 in the androgen receptor].
Comptes rendus des seances de la Societe de biologie et de ses filiales - 1 Jan 1993
Lumbroso S, Lobaccaro J M, Belon C, Amram S, Rodier M, Bringer J, Sultan C
Abstract excerpt
In a large kindred with Reifenstein syndrome, we performed the molecular analysis of the androgen receptor gene. Since the biochemical characteristics of the androgen receptor, determined on the cultured genital skin fibroblasts, showed a drastic decrease of the androgen binding capacity, we assumed that a point mutation was located in exons 4-8 encoding the carboxy-terminal domain of the receptor. Enzymatic...
Topics
- Arginine
- Disorders of Sex Development
- Exons
- Histidine
- Humans
- Male
- Mutation
- Receptors, Androgen
- Syndrome