| Title |
Molecular diagnosis of type 1c glycogen storage disease
|
|---|---|
| Published in |
Human Genetics, April 1999
|
| DOI | 10.1007/s004390050948 |
| Pubmed ID | |
| Authors |
A. R. Janecke, Nils U. Bosshard, Ertan Mayatepek, Andreas Schulze, Richard Gitzelmann, Ann Burchell, Claus R. Bartram, Bart Janssen |
| Abstract |
Glycogen storage disease type 1 (GSD 1) results from deficiency of the microsomal multicomponent glucose-6-phosphatase system. Malfunction of the catalytic subunit characterises GSD 1a. GSD 1b and GSD 1c are characterised by defective microsomal glucose-6-phosphate or pyrophosphate/phosphate transport, respectively. Recently, a gene encoding a microsomal transporter protein has been found to be mutated in GSD 1b and 1c patients. Here, we report the genomic sequence of the transporter gene and the detection of a homozygous 2-bp deletion (1211delCT) and a homozygous donor splice site mutation (317+1G-->T) in two GSD 1c patients, confirming that GSD 1c is allelic to GSD 1b. |
Mendeley readers
The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 12 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor > Associate Professor | 3 | 25% |
| Professor | 2 | 17% |
| Student > Bachelor | 1 | 8% |
| Student > Master | 1 | 8% |
| Other | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 4 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 4 | 33% |
| Biochemistry, Genetics and Molecular Biology | 2 | 17% |
| Medicine and Dentistry | 2 | 17% |
| Unknown | 4 | 33% |
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 19 November 2007.
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
#11,943
of 37,037 outputs
Outputs of similar age from Human Genetics
#4
of 14 outputs
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