| Title |
Molecular basis of phenotype expression in homocystinuria
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, July 1994
|
| DOI | 10.1007/bf00711354 |
| Pubmed ID | |
| Authors |
J P Kraus |
| Abstract |
Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria in humans. The human gene maps to chromosome 21q22.3 and encodes the CBS subunit of 551 amino acid residues (63kDa). CBS, a tetramer of these subunits, binds its two substrates, homocysteine and serine, and three additional ligands: pyridoxal 5'-phosphate, S-adenosylmethionine, and haem. Screening for mutations by expressing patient cDNA segments in E. coli permitted us to separate the parental CBS alleles, localize each mutation within one third of the cDNA, and functionally analyse the mutant protein. Using this method we identified the first 14 mutations in homocystinuria. The most common mutation in patients of predominantly 'Celtic' origin is the G919A transition which substitutes serine for glycine 307. |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 5 | 24% |
| Researcher | 5 | 24% |
| Student > Ph. D. Student | 2 | 10% |
| Lecturer > Senior Lecturer | 1 | 5% |
| Student > Bachelor | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 5 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 24% |
| Agricultural and Biological Sciences | 4 | 19% |
| Biochemistry, Genetics and Molecular Biology | 3 | 14% |
| Neuroscience | 2 | 10% |
| Mathematics | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 6 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 11. 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 16 November 2023.
All research outputs
#2,851,704
of 23,749,054 outputs
Outputs from Journal of Inherited Metabolic Disease
#138
of 1,897 outputs
Outputs of similar age
#1,090
of 22,155 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#1
of 3 outputs
Altmetric has tracked 23,749,054 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,897 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done particularly well, scoring higher than 92% of its peers.
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