about
Phenylketonuria in a low incidence population: molecular characterisation of mutations in FinlandHaplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.Sequence variation at the phenylalanine hydroxylase gene in the British Isles.Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomesCharacterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypesPhenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative StudyMutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.Genetic history of phenylketonuria mutations in Italy.Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutationsPopulation genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
P2860
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P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Multiple origins for phenylketonuria in Europe
@ast
Multiple origins for phenylketonuria in Europe
@en
type
label
Multiple origins for phenylketonuria in Europe
@ast
Multiple origins for phenylketonuria in Europe
@en
prefLabel
Multiple origins for phenylketonuria in Europe
@ast
Multiple origins for phenylketonuria in Europe
@en
P2093
P2860
P1476
Multiple origins for phenylketonuria in Europe
@en
P2093
D S Konecki
E Svensson
M Dasovich
P Guldberg
R C Eisensmith
U Lichter-Konecki
P2860
P304
P407
P577
1992-12-01T00:00:00Z