Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
about
Phenylketonuria in a low incidence population: molecular characterisation of mutations in FinlandInfluence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaSequence variation at the phenylalanine hydroxylase gene in the British Isles.Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative StudyClinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations
P2860
Q24518394-61887651-A251-4097-AEB7-B2F863F472D2Q33947342-723352BD-91CE-4584-991E-CEB7DB136B8BQ35079956-CFA8553D-B237-42C8-A156-E0CD223D8EE2Q35238355-CAD83F2C-2E10-4275-8357-4BC34563E1B7Q35882897-C4D24C9C-CDBA-4235-979A-0CCAB6FEA2BAQ35940374-2522B770-0DC2-41D3-8B62-35E512704836Q40727225-7DBDBC83-8404-4F25-ADA8-C12EED4C5B22Q41940745-628A3AFD-6687-4AF6-8C1D-DF83963FC354Q42664948-75A842D9-7EFE-4ED9-A21A-C39533F53AEC
P2860
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@en
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@nl
type
label
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@en
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@nl
prefLabel
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@en
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@nl
P2093
P2860
P1476
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
@en
P2093
Baranovskaya SS
Eisensmith RC
Goltsov AA
Schwartz EI
Tsukerman GL
Tyfield LA
P2860
P304
P407
P577
1995-01-01T00:00:00Z