Article
Parental origin of transcription from the human GNAS1 gene.
Journal of medical genetics - 1 Aug 1994
Campbell R, Gosden C M, Bonthron D T
Abstract excerpt
Variation in the phenotypic expression of Albright's hereditary osteodystrophy (AHO) determined by the parent of transmission, suggests that the human Gs alpha gene (GNAS1), in which mutations occur in AHO, may be under imprinted control. GNAS1 is also known to map to a chromosomal region (20q13....
Topics
- Alleles
- Animals
- Base Sequence
- Chromosomes, Human, Pair 20
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Female
- Fetal Diseases
- GTP-Binding Proteins
- Gene Expression Regulation, Developmental
- Genomic Imprinting
- Gestational Age
- Humans
- Lymphocytes
- Male
- Mice
- Molecular Sequence Data
- Point Mutation