Article
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Clinical genetics - 1 Mar 1992
Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla-Scholz C, Horst J
Abstract excerpt
A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase...
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