| Title |
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib
|
|---|---|
| Published in |
Human Genetics, November 1998
|
| DOI | 10.1007/s004390050856 |
| Pubmed ID | |
| Authors |
K. Ihara, Ryuichi Kuromaru, Toshiro Hara |
| Abstract |
Glycogen storage disease (GSD) type Ib is an autosomal recessive disorder caused by a deficiency in microsomal glucose 6-phosphate (G6P) translocase. A gene mutated in GSD type Ib patients has recently been isolated. We have determined the entire sequence of the human G6P translocase gene by PCR-directed sequencing. The gene spans approximately 5 kb of genomic DNA and contains eight exons. Analysis of DNA from a Japanese patient with GSD type Ib revealed new compound heterozygous mutations; a T to C transition at cDNA position 521 resulting in W118R, and an A to C transversion at the -2 splicing acceptor site of intron 1. Reverse transcription (RT)-PCR from leukocyte RNA of the patient revealed the abnormally spliced transcript. These results further support the suggestion that the gene is causative for GSD Ib and should be useful in the molecular diagnosis of such patients. |
Mendeley readers
The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 8 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 1 | 13% |
| Student > Doctoral Student | 1 | 13% |
| Professor | 1 | 13% |
| Student > Master | 1 | 13% |
| Professor > Associate Professor | 1 | 13% |
| Other | 0 | 0% |
| Unknown | 3 | 38% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 3 | 38% |
| Medicine and Dentistry | 2 | 25% |
| Unknown | 3 | 38% |
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 08 September 2017.
All research outputs
#8,533,995
of 25,371,288 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#12,751
of 41,240 outputs
Outputs of similar age from Human Genetics
#7
of 19 outputs
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