| Title |
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
|
|---|---|
| Published in |
Human Genetics, July 1996
|
| DOI | 10.1007/s004390050213 |
| Pubmed ID | |
| Authors |
Tze-Tze Liu, Kwang-Jen Hsiao |
| Abstract |
Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of tetrahydrobiopterin (BH4)-deficient phenylketonuria. Two single base alterations of PTPS cDNA, a C-to-T transition at nucleotide 259 and a novel A-to-G transition at nucleotide 155 (according to cDNA sequence), were identified in two Chinese PTPS-deficient siblings by the reverse transcription-polymerase chain reaction (RT-PCR). The C-to-T transition at nucleotide 259 results in an amino acid change from proline to serine at codon 87 (Pro87Ser), and the A-to-G transition at nucleotide 155 causes an amino acid change from asparagine to serine at codon 52 (Asn52Ser) of PTPS. The C259T missense mutation can be identified by analysis of the BbvI restriction fragments of the PCR-amplified PTPS cDNA product, and was found to account for 42% (11/26) of 26 Chinese PTPS mutant alleles studied. However, none of 100 normal alleles screened were found to have this change. This result indicates that the C259T transition may be a common mutation in Chinese PTPS-deficient patients. |
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 % |
|---|---|---|
| United Kingdom | 1 | 8% |
| Unknown | 11 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 2 | 17% |
| Student > Ph. D. Student | 2 | 17% |
| Professor > Associate Professor | 2 | 17% |
| Professor | 1 | 8% |
| Researcher | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 3 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 2 | 17% |
| Chemistry | 2 | 17% |
| Social Sciences | 2 | 17% |
| Mathematics | 1 | 8% |
| Neuroscience | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 3 | 25% |
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 18 December 2007.
All research outputs
#8,535,472
of 25,374,647 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#8,331
of 28,014 outputs
Outputs of similar age from Human Genetics
#12
of 36 outputs
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