| Title |
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
|
|---|---|
| Published in |
neurogenetics, August 1998
|
| DOI | 10.1007/s100480050037 |
| Pubmed ID | |
| Authors |
S. M. Forrest, Melanie Knight, Martin B. Delatycki, Damien Paris, Robert Williamson, John King, Leone Yeung, Najah Nassif, Garth A. Nicholson |
| Abstract |
Most cases of Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport. However, between 1% and 5% of mutations are single base changes in the sequence of the FRDA gene, causing missense, nonsense, or splicing mutations. We describe three new mutations, IVS4nt2 (T to G), R165C, and L182F, which occur in patients in association with GAA expansions. These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype. Missense mutations, even in highly evolutionally conserved amino acids, may cause a mild or severe phenotype. |
Mendeley readers
The data shown below were compiled from readership statistics for 50 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 50 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 18% |
| Other | 9 | 18% |
| Student > Ph. D. Student | 8 | 16% |
| Student > Doctoral Student | 4 | 8% |
| Professor > Associate Professor | 3 | 6% |
| Other | 7 | 14% |
| Unknown | 10 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 11 | 22% |
| Agricultural and Biological Sciences | 11 | 22% |
| Medicine and Dentistry | 9 | 18% |
| Chemistry | 3 | 6% |
| Social Sciences | 2 | 4% |
| Other | 5 | 10% |
| Unknown | 9 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 October 2018.
All research outputs
#8,534,976
of 25,374,647 outputs
Outputs from neurogenetics
#130
of 389 outputs
Outputs of similar age
#9,920
of 31,221 outputs
Outputs of similar age from neurogenetics
#3
of 6 outputs
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