Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

Prenatal Diagnosis

Volumn 17, Issue 10, 1997, Pages 964-966

  Mustonen, Aki ^a   Van Amstel, Hans Kristian Ploos ^b   Berger, Ruud ^c   Salo, Matti K ^a   Viinikka, Lasse ^d   Simola, Kalle O J ^a  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Mutation analysis; Prenatal diagnosis; Tyrosinaemia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHORION VILLUS SAMPLING; DNA DETERMINATION; FETUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; METABOLIC DISORDER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TYROSINEMIA;

AMINO ACID METABOLISM, INBORN ERRORS; CHORIONIC VILLI SAMPLING; HETEROZYGOTE; HUMANS; HYDROLASES; INFANT; LIVER FAILURE; MALE; MUTATION; TYROSINE;

EID: 0030827052     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199710)17:10<964::AID-PD164>3.0.CO;2-6     Document Type: Article

References (15)

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