Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
AUTOR(ES)
Halley, D
RESUMO
Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013522Documentos Relacionados
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