| Title |
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
|
|---|---|
| Published in |
Human Genetics, January 1995
|
| DOI | 10.1007/bf00225091 |
| Pubmed ID | |
| Authors |
Barbara Lüdecke, Bernd Dworniczak, Klaus Bartholomé |
| Abstract |
We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome. |
Mendeley readers
The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 39 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 9 | 23% |
| Other | 5 | 13% |
| Researcher | 5 | 13% |
| Student > Bachelor | 3 | 8% |
| Professor | 3 | 8% |
| Other | 9 | 23% |
| Unknown | 5 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 11 | 28% |
| Neuroscience | 7 | 18% |
| Medicine and Dentistry | 5 | 13% |
| Biochemistry, Genetics and Molecular Biology | 4 | 10% |
| Computer Science | 1 | 3% |
| Other | 3 | 8% |
| Unknown | 8 | 21% |
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 20 June 2022.
All research outputs
#7,428,992
of 22,711,242 outputs
Outputs from Human Genetics
#930
of 2,950 outputs
Outputs of similar age
#16,097
of 76,139 outputs
Outputs of similar age from Human Genetics
#2
of 16 outputs
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