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Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis
Author(s) -
Liechti S.,
Dionisi Vici C.,
Bachmann C.,
Mazziotta M. R. M.,
Bartuli A.,
Sabetta G.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800215
Subject(s) - ornithine transcarbamylase deficiency , restriction fragment length polymorphism , ornithine transcarbamylase , ornithine carbamoyltransferase , genetics , heterozygote advantage , prenatal diagnosis , metabolic disease , genotype , medicine , biology , pregnancy , ornithine , urea cycle , fetus , amino acid , arginine , gene
Summary The use of restriction fragment length polymorphism studies for prenatal exclusion of OTC deficiency in a carrier mother is reported.