Abstract:
:The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase locus in the human genome. The detection of polymorphisms in this locus by several restriction enzymes has allowed feasibility studies of prenatal diagnosis of classical phenylketonuria and identification of carriers of the trait. Results indicate that these services could be provided for up to 75% of all families with phenylketonuric children in the general Caucasian population.
journal_name
Naturejournal_title
Natureauthors
Woo SL,Lidsky AS,Güttler F,Chandra T,Robson KJdoi
10.1038/306151a0subject
Has Abstractpub_date
1983-11-10 00:00:00pages
151-5issue
5939eissn
0028-0836issn
1476-4687journal_volume
306pub_type
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