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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1993-9-9
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pubmed:abstractText |
The known mutant alleles of the human phenylalanine hydroxylase (PAN) gene were analyzed in 25 phenylketonuria (PKU) families from North China by using polymerase chain reaction and allele-specific oligonucleotide dot blot hybridization techniques. The results showed that the six mutations analyzed accounted for 62% of all PKU genes. The three most frequent mutations were R243Q, R413P and Y204C. Seven prenatal gene diagnoses were carried out in 6 PKU families and were confirmed after birth or by examination of aborted materials.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1001-9294
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
205-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1307495-Base Sequence,
pubmed-meshheading:1307495-DNA,
pubmed-meshheading:1307495-Female,
pubmed-meshheading:1307495-Fetal Diseases,
pubmed-meshheading:1307495-Genes,
pubmed-meshheading:1307495-Humans,
pubmed-meshheading:1307495-Molecular Sequence Data,
pubmed-meshheading:1307495-Pedigree,
pubmed-meshheading:1307495-Phenylalanine Hydroxylase,
pubmed-meshheading:1307495-Phenylketonurias,
pubmed-meshheading:1307495-Point Mutation,
pubmed-meshheading:1307495-Polymerase Chain Reaction,
pubmed-meshheading:1307495-Pregnancy,
pubmed-meshheading:1307495-Prenatal Diagnosis
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pubmed:year |
1992
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pubmed:articleTitle |
Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
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pubmed:affiliation |
Institute of Basic Medical Sciences, CAMS, Beijing.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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