| pubmed-article:8076937 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0035687 | lld:lifeskim |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0268483 | lld:lifeskim |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0599155 | lld:lifeskim |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0060828 | lld:lifeskim |
| pubmed-article:8076937 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
| pubmed-article:8076937 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:8076937 | pubmed:dateCreated | 1994-9-30 | lld:pubmed |
| pubmed-article:8076937 | pubmed:abstractText | Two mutations are reported in six tyrosinemia type 1 patients from northern Europe. In four patients, a G to A transition at nucleotide position 1009 (G1009-->A) of the fumarylacetoacetase (FAH) coding sequence caused aberrant splicing by introducing an acceptor splice site within exon 12, thereby deleting the first 50 nucleotides of this exon. The following exon-intron boundary was frequently missed, and a cryptic donor splice site within intron 12 caused a partial intron 12 retention of 105 bp. This point mutation alternatively gave a glycine 337 to serine substitution in instances of correct splicing. The mutation is rapidly detected by PvuII digestion of polymerase chain reaction (PCR)-amplified genomic DNA. Another mutation, g+5-->a in the intron 12 donor splice site consensus sequence (IVS12 g+5-->a), was found in five of the patients. This caused alternative splicing with retention of the first 105 nucleotides of intron 12, exon 12 skipping, and a combined deletion of exons 12 and 13. Rapid detection of this mutation is achieved by restriction digestion of PCR-amplified genomic DNA; a mismatch primer combined with the point mutation creates a Tru9I restriction site. One patient who was homozygous for the G1009-->A mutation had a chronic form of tyrosinemia. Three patients were combined heterozygotes for G1009-->A and IVS12 g+5-->a. Their clinical phenotypes varied from acute to chronic, indicating the impact of background genes and/or external factors on the presentation of tyrosinemia type 1. | lld:pubmed |
| pubmed-article:8076937 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8076937 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8076937 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8076937 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8076937 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:8076937 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:8076937 | pubmed:author | pubmed-author:BergerRR | lld:pubmed |
| pubmed-article:8076937 | pubmed:author | pubmed-author:KristensenTT | lld:pubmed |
| pubmed-article:8076937 | pubmed:author | pubmed-author:KvittingenE... | lld:pubmed |
| pubmed-article:8076937 | pubmed:author | pubmed-author:HøieKK | lld:pubmed |
| pubmed-article:8076937 | pubmed:author | pubmed-author:RootweltHH | lld:pubmed |
| pubmed-article:8076937 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8076937 | pubmed:volume | 94 | lld:pubmed |
| pubmed-article:8076937 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8076937 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8076937 | pubmed:pagination | 235-9 | lld:pubmed |
| pubmed-article:8076937 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:8076937 | pubmed:meshHeading | pubmed-meshheading:8076937-... | lld:pubmed |
| pubmed-article:8076937 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8076937 | pubmed:articleTitle | Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. | lld:pubmed |
| pubmed-article:8076937 | pubmed:affiliation | Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, Norway. | lld:pubmed |
| pubmed-article:8076937 | pubmed:publicationType | Journal Article | lld:pubmed |
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