Article
Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation.
Human heredity - 1 Jan 2000
Giannattasio S, Jurgelevicius V, Lattanzio P, Cimbalistienè L, Marra E, Kucinskas V
Abstract excerpt
A genealogical study was performed in Lithuanian phenylketonuria (PKU) families with the aim of tracing the origins of the R408W/haplotype 2/VNTR3 allele. The relative frequency of six phenylalanine hydroxylase (PAH) mutations (R408W, R158Q, R261Q, G272X, IVS10nt-11g --> a, and IVS12nt1g --> a) common in Eastern European populations and their association with variable number of tandem repeat (VNTR) and short...
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