| Title |
An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy
|
|---|---|
| Published in |
Human Genetics, June 1991
|
| DOI | 10.1007/bf00204172 |
| Pubmed ID | |
| Authors |
Wolfgang Bohne, Kurt von Figura, Volkmar Gieselmann |
| Abstract |
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an 11-bp deletion in exon 8. Although this allele produces normal amounts of ASA mRNA, no arylsulfatase A cross-reacting material could be detected in cultured fibroblasts from the patient. The patient was found to be a compound heterozygote, the other allele is also known to generate no ASA polypeptides. This patient is another example where absence of ASA polypeptides correlates with the severe late infantile form of metachromatic leukodystrophy. |
Mendeley readers
The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 6 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Librarian | 1 | 17% |
| Student > Bachelor | 1 | 17% |
| Other | 1 | 17% |
| Student > Doctoral Student | 1 | 17% |
| Unknown | 2 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 2 | 33% |
| Medicine and Dentistry | 2 | 33% |
| Unknown | 2 | 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 14 June 2015.
All research outputs
#7,453,479
of 22,786,691 outputs
Outputs from Human Genetics
#933
of 2,953 outputs
Outputs of similar age
#4,979
of 17,630 outputs
Outputs of similar age from Human Genetics
#3
of 19 outputs
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