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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2008-5-28
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pubmed:abstractText |
To investigate the distribution character of the mutations of 6-pyruvoyl tetrahydropterin synthase (PTPS) gene and to provide effective basis for gene diagnosis of tetrahydrobiopterin deficiency (BH4D) in children with hyperphenylalaninemia.
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pubmed:language |
chi
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1000-503X
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
170-4
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pubmed:meshHeading |
pubmed-meshheading:18505119-Asian Continental Ancestry Group,
pubmed-meshheading:18505119-Biopterin,
pubmed-meshheading:18505119-Child, Preschool,
pubmed-meshheading:18505119-DNA Mutational Analysis,
pubmed-meshheading:18505119-Humans,
pubmed-meshheading:18505119-Infant,
pubmed-meshheading:18505119-Infant, Newborn,
pubmed-meshheading:18505119-Mutation,
pubmed-meshheading:18505119-Phenylketonurias,
pubmed-meshheading:18505119-Phosphorus-Oxygen Lyases,
pubmed-meshheading:18505119-Polymerase Chain Reaction
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pubmed:year |
2008
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pubmed:articleTitle |
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
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pubmed:affiliation |
Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China.
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't
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