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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1994-2-3
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pubmed:abstractText |
Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families. The first is a G to A splice mutation in the last position of intron 9. A screening method using allele-specific amplification has been designed for the rapid detection of this mutation. The second mutation is a C to T substitution in exon 10, changing Arg201 to Trp. This mutation can be detected by restriction enzyme cleavage.
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pubmed:language |
eng
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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 |
Jan
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pubmed:issn |
0340-6717
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
59-62
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8270256-Alleles,
pubmed-meshheading:8270256-Base Sequence,
pubmed-meshheading:8270256-Female,
pubmed-meshheading:8270256-Genetic Markers,
pubmed-meshheading:8270256-Humans,
pubmed-meshheading:8270256-Hydroxymethylbilane Synthase,
pubmed-meshheading:8270256-Introns,
pubmed-meshheading:8270256-Male,
pubmed-meshheading:8270256-Molecular Sequence Data,
pubmed-meshheading:8270256-Mutation,
pubmed-meshheading:8270256-Nucleic Acid Hybridization,
pubmed-meshheading:8270256-Oligonucleotides,
pubmed-meshheading:8270256-Pedigree,
pubmed-meshheading:8270256-Polymerase Chain Reaction,
pubmed-meshheading:8270256-Porphyria, Acute Intermittent
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pubmed:year |
1994
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pubmed:articleTitle |
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
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pubmed:affiliation |
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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