[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)]. / Association, chez le même sujet, d'une deletion du bras court du chromosome 4 (4p-) et d'un deficit complet en parahydroxyphenylpyruvate oxydase hépatique (tyrosinose).
J Genet Hum
; 29(4): 455-61, 1981 Dec.
Article
em Fr
| MEDLINE
| ID: mdl-7328420
ABSTRACT
The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.
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Base de dados:
MEDLINE
Assunto principal:
Oxigenases
/
Deleção Cromossômica
/
Cromossomos Humanos 4-5
/
Erros Inatos do Metabolismo dos Aminoácidos
/
4-Hidroxifenilpiruvato Dioxigenase
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Middle aged
/
Newborn
Idioma:
Fr
Ano de publicação:
1981
Tipo de documento:
Article