| pubmed-article:9703425 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0013421 | lld:lifeskim |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0041491 | lld:lifeskim |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0441748 | lld:lifeskim |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0162735 | lld:lifeskim |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:9703425 | lifeskim:mentions | umls-concept:C0013331 | lld:lifeskim |
| pubmed-article:9703425 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:9703425 | pubmed:dateCreated | 1998-8-18 | lld:pubmed |
| pubmed-article:9703425 | pubmed:abstractText | This report concerns one new mutation in the tyrosine hydroxylase (TH) gene in three patients originating from three unrelated Dutch families with autosomal recessive L-DOPA-responsive dystonia (DRD). In this study, all exons of the TH gene were amplified by the polymerase chain reaction and subjected to analyses by single-strand conformation polymorphism. An aberrant migration pattern was observed for exon 6 of the TH gene in all patients. Direct sequencing of the coding region of exon 6 revealed the presence of one novel missense mutation. An a698g transition resulted in the substitution of the evolutionary conserved arginine 233 by a histidine (R233H). All patients were homozygous for the mutation. This new mutation in the TH gene was confirmed by restriction enzyme analysis with the restriction enzyme HhaI. Thus, a high proportion of defective TH alleles may be R233H in The Netherlands. | lld:pubmed |
| pubmed-article:9703425 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9703425 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9703425 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9703425 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9703425 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9703425 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9703425 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:9703425 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:HylandKK | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:WeversR ARA | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:SmeitinkJ AJA | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:de Rijk-van... | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:van den... | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:JanssenR JRJ | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:Steenbergen-S... | lld:pubmed |
| pubmed-article:9703425 | pubmed:author | pubmed-author:LuitenBB | lld:pubmed |
| pubmed-article:9703425 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9703425 | pubmed:volume | 102 | lld:pubmed |
| pubmed-article:9703425 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9703425 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9703425 | pubmed:pagination | 644-6 | lld:pubmed |
| pubmed-article:9703425 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:meshHeading | pubmed-meshheading:9703425-... | lld:pubmed |
| pubmed-article:9703425 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9703425 | pubmed:articleTitle | A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. | lld:pubmed |
| pubmed-article:9703425 | pubmed:affiliation | Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands. B.vandeHeuvel@ckslkn.azn.nl | lld:pubmed |
| pubmed-article:9703425 | pubmed:publicationType | Journal Article | lld:pubmed |
| entrez-gene:7054 | entrezgene:pubmed | pubmed-article:9703425 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9703425 | lld:pubmed |
