Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid

Prenatal Diagnosis

Volumn 19, Issue 1, 1999, Pages 61-63

  Poudrier, Jacques ^a   Lettre, Francine ^a   St Louis, Maryse ^a   Tanguay, Robert M ^a,b  

^a Université Laval   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

Author keywords

Fumarylacetoacetate hydrolase; Succinylacetone; Tyrosinaemia

Indexed keywords

FUMARYLACETOACETASE; SUCCINYLACETONE;

AMNION FLUID ANALYSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; LIVER; METABOLITE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TYROSINEMIA;

EID: 0032899362     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-%23     Document Type: Article

References (17)

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