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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1994-1-21
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pubmed:abstractText |
Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.
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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 |
Dec
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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 |
92
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
549-53
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:8262514-Adult,
pubmed-meshheading:8262514-Alleles,
pubmed-meshheading:8262514-Base Sequence,
pubmed-meshheading:8262514-Cytosine,
pubmed-meshheading:8262514-DNA,
pubmed-meshheading:8262514-DNA Primers,
pubmed-meshheading:8262514-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:8262514-Exons,
pubmed-meshheading:8262514-Female,
pubmed-meshheading:8262514-Guanine,
pubmed-meshheading:8262514-Humans,
pubmed-meshheading:8262514-Hydroxymethylbilane Synthase,
pubmed-meshheading:8262514-Molecular Sequence Data,
pubmed-meshheading:8262514-Pedigree,
pubmed-meshheading:8262514-Point Mutation,
pubmed-meshheading:8262514-Polymerase Chain Reaction,
pubmed-meshheading:8262514-Porphyria, Acute Intermittent,
pubmed-meshheading:8262514-RNA, Messenger
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pubmed:year |
1993
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pubmed:articleTitle |
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
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pubmed:affiliation |
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
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pubmed:publicationType |
Journal Article
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