Article
Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective.
American journal of medical genetics. Part A - 15 Apr 2003
Loesch D Z, Huggins R M, Bui Q M, Taylor A K, Hagerman R J
Abstract excerpt
The effect of deficit of the FMR1-gene product (FMRP) on physical phenotype was investigated using a robust modification of the maximum likelihood estimators for pedigree data. The approach is a powerful method of examining genotype-phenotype relationships because it adjusts for intra-familial variation, and the robust modification allows violation of distributional assumptions in the data to be overcome by...
Topics
- Adolescent
- Adult
- Aged
- Anthropometry
- Child
- Child, Preschool
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Immunohistochemistry