2000•Molecular Genetics and MetabolismRequires access

Mutations in the 4-Hydroxyphenylpyruvic Acid Dioxygenase Gene Are Responsible for Tyrosinemia Type III and Hawkinsinuria

Kaede Tomoeda, Hisataka Awata, Toshinobu Matsuura, Ichiro Matsuda, E. Ploechl, Tom Milovac, Avihu Boneh, C. Ronald Scott, David M. Danks, Fumio Endo

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Key concepts: Tyrosinemia, Homogentisic acid, Missense mutation, Tyrosine, Chemistry, Tyrosine aminotransferase, Endocrinology, Compound heterozygosity

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Mutations in the 4-Hydroxyphenylpyruvic Acid Dioxygenase Gene Are Responsible for Tyrosinemia Type III and Hawkinsinuria — Research Paper | ScholarLens