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Article

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Annals of human genetics - 1 Sept 2000

Janssen R J, Wevers R A, Häussler M, Luyten J A, Steenbergen-Spanjers G C, Hoffmann G F, Nagatsu T, Van den Heuvel L P

Abstract excerpt

We report a branch site mutation in the gene of the enzyme tyrosine hydroxylase (TH): a -24t > a substitution two bases upstream of the adenosine in the branchpoint sequence (BPS) of intron 11. As normal lariat formation is therefore prevented, alternative splicing takes place; use of the BPS of intron 12 results in skipping of exon 12, whereas the use of a cryptic branch site in intron 11 leads to partial...

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PMID: 11281275
DOI: 10.1046/j.1469-1809.2000.6450375.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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