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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 |
2000-3-21
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pubmed:abstractText |
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). As far as the gene abnormalities of the HMBS, many different mutations have been reported. In this work, we investigated the presence of mutations in a Japanese family with AIP.
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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 |
Aug
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pubmed:issn |
0009-9120
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
411-7
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:10667475-Adult,
pubmed-meshheading:10667475-Aminolevulinic Acid,
pubmed-meshheading:10667475-Child, Preschool,
pubmed-meshheading:10667475-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:10667475-Erythrocytes,
pubmed-meshheading:10667475-Female,
pubmed-meshheading:10667475-Humans,
pubmed-meshheading:10667475-Hydroxymethylbilane Synthase,
pubmed-meshheading:10667475-Japan,
pubmed-meshheading:10667475-Male,
pubmed-meshheading:10667475-Mutation,
pubmed-meshheading:10667475-Pedigree,
pubmed-meshheading:10667475-Point Mutation,
pubmed-meshheading:10667475-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10667475-Porphobilinogen,
pubmed-meshheading:10667475-Porphyria, Acute Intermittent,
pubmed-meshheading:10667475-RNA Splicing
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pubmed:year |
1999
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pubmed:articleTitle |
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.
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pubmed:affiliation |
Second Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. nmaeda@grape.med.tottori-u.ac.jp
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pubmed:publicationType |
Journal Article
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