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Article

Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse.

Molecular genetics and metabolism - 1 Jul 2004

Khoo Jeffrey P, Nicoli Taija, Alp Nicholas J, Fullerton Janice, Flint Jonathan, Channon Keith M

Abstract excerpt

The hph-1 ENU-mutant mouse provides a model of tetrahydrobiopterin deficiency for studying hyperphenylalaninaemia, dopa-response dystonia, and vascular dysfunction. We have successively localized the hph-1 mutation to a congenic interval of 1.6-2.8 Mb, containing the GCH gene encoding GTP cyclohydrolase I (GTP-CH I). We used these data to establish a PCR method for genotyping wild type, hph-1 and heterozygote...

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PMID: 15234340
DOI: 10.1016/j.ymgme.2004.04.006

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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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Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse.PMID 15234340Read ↗

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