Article
Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations.
American journal of medical genetics - 15 Sept 1991
Filippi G, Arslanian A, Dagna-Bricarelli F, Pierluigi M, Grasso M, Rinaldi A, Rocchi M, Siniscalco M
Abstract excerpt
A large Sardinian family including 13 Martin-Bell syndrome (MBS) patients, several instances of normal transmitting males or females, and the G6PD-Mediterranean mutant segregating in some of its branches, has been thoroughly investigated with the hope of gaining further insight on the nature of the FRAX-mutation. All the MBS patients and the 15 obligate heterozygous women present in the pedigree could be traced...
Topics
- Adult
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- Female
- Fragile X Syndrome
- Genetic Linkage
- Glucosephosphate Dehydrogenase Deficiency
- Humans