Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

Autor:	A, Mustonen, H K, Ploos van Amstel, R, Berger, M K, Salo, L, Viinikka, K O, Simola
Rok vydání:	1997
Předmět:	Male Heterozygote Chorionic Villi Sampling Hydrolases Mutation Humans Infant Tyrosine Amino Acid Metabolism Inborn Errors Liver Failure
Zdroj:	Prenatal diagnosis. 17(10)
ISSN:	0197-3851
Popis:	Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a healthy child in the same family.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::b9a5bb5347ef9f3cc98e3828880d17b6 https://pubmed.ncbi.nlm.nih.gov/9358577 Zobrazit plný text záznamu Plný text