| Title |
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
|
|---|---|
| Published in |
Human Genetics, July 1998
|
| DOI | 10.1007/s004390050791 |
| Pubmed ID | |
| Authors |
C. Zühlke, Franco Laccone, Mireille Cossée, Alfried Kohlschütter, Michel Koenig, Eberhard Schwinger |
| Abstract |
Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder caused by loss-of-function mutations in the gene encoding frataxin. Most patients with FRDA have trinucleotide repeat expansions in both alleles of the FRDA 1 gene. In patients heterozygous for the expansion the second allele may be inactivated by a point mutation. We identified the ATG-->ATT (M11) mutation of the start codon in three independent families. Individuals with symptoms of FRDA in these families are compound heterozygous for the repeat expansion and the ATG mutation. To look for a common founder of the M11 mutation, a detailed linkage analysis employing six polymorphic chromosome 9 markers was performed. We found complete haplotype identity for two of the three chromosomes with the point mutation. The third case shows partial conformity and may be the result of a single recombination event. |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 32 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 28% |
| Student > Ph. D. Student | 7 | 22% |
| Other | 3 | 9% |
| Professor > Associate Professor | 3 | 9% |
| Student > Master | 3 | 9% |
| Other | 5 | 16% |
| Unknown | 2 | 6% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 11 | 34% |
| Agricultural and Biological Sciences | 8 | 25% |
| Medicine and Dentistry | 3 | 9% |
| Chemistry | 3 | 9% |
| Neuroscience | 3 | 9% |
| Other | 1 | 3% |
| Unknown | 3 | 9% |
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 25,373,627 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#10,344
of 32,510 outputs
Outputs of similar age from Human Genetics
#5
of 9 outputs
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