Linked Life Data

8707300

Source:http://linkedlifedata.com/resource/pubmed/id/8707300

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-9-12
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
313-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
pubmed:affiliation
Institute of Biochemistry. National Yang-Ming University, Taipei, Taiwan, Republic of China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't