Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1991 Jan;28(1):38-40.
doi: 10.1136/jmg.28.1.38.

Two distinct mutations at a single BamHI site in phenylketonuria

D Melle  1 , P Verelst, F Rey, M Berthelon, B François, A Munnich, S Lyonnet
Affiliations

Two distinct mutations at a single BamHI site in phenylketonuria

D Melle et al. J Med Genet. 1991 Jan.

Abstract

Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly----stop and 273ser----phe, respectively). Both mutations were detected in north eastern France or Belgium and occurred on the background of RFLP haplotype 7 alleles. The present study supports the view that the clinical heterogeneity in PKU is accounted for by the large variety of mutant genotypes associated with PAH deficiencies.

PubMed Disclaimer

References

    1. Am J Hum Genet. 1985 Jul;37(4):619-34 - PubMed
    1. Am J Hum Genet. 1989 Apr;44(4):511-7 - PubMed
    1. Genomics. 1989 Nov;5(4):936-9 - PubMed
    1. Biochemistry. 1988 Apr 19;27(8):2881-5 - PubMed
    1. Am J Hum Genet. 1988 Dec;43(6):914-21 - PubMed

Substances