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Journal article

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and Hawkinsinuria

K Tomoeda, H Awata, T Matsuura, I Matsuda, E Ploechl, T Milovac, A Boneh, CR Scott, DH Danks, F Endo

Molecular Genetics and Metabolism | ACADEMIC PRESS INC | Published : 2000

DOI: 10.1006/mgme.2000.3085

University of Melbourne Researchers

Avihu Boneh's Profile Picture
Avihu Boneh Author Paediatrics Royal Children's Hospital

Citation metrics

52Web of Science
53Scopus
63Dimensions

Keywords

Liver
Life Sciences & Biomedicine
Genetics & Heredity
Hpd
Amino Acid Metabolism, Inborn Errors
Tyrosine Catabolism
Cyclohexenes
Tyrosinemia Type Iii
Base Sequence
Tyrosinemias
Humans
Enzyme
Adolescent
Infant
Mutation, Missense
Hypertyrosinemia
Hawkinsinuria
4-Hydroxyphenylpyruvic Acid Dioxygenase (hpd) Gene
Dna Mutational Analysis
Research & Experimental Medicine
Deficiency
Medicine, Research & Experimental
4-Hydroxyphenylpyruvate Dioxygenase
Pedigree
Family Health
Science & Technology
Mutation
Amino Acids, Sulfur
Dna
Male
Female
Endocrinology & Metabolism

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