Novel PKU mutation on haplotype 2 in French-Canadians.

Novel PKU mutation on haplotype 2 in French-Canadians.

Item
http://www.wikidata.org/entity/Q40576126
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientSeven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiencyPAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.Multiple origins for phenylketonuria in EuropeScreening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutationRecurrent mutation in the human phenylalanine hydroxylase geneMore than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programA termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genesSequence variation at the phenylalanine hydroxylase gene in the British Isles.Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.Founder effect of a prevalent phenylketonuria mutation in the Oriental population.Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
P2860

Novel PKU mutation on haplotype 2 in French-Canadians.

Item
http://www.wikidata.org/entity/Q40576126
description
1989 nî lūn-bûn
@nan
1989年の論文
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1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Novel PKU mutation on haplotype 2 in French-Canadians.
@en
type
label
Novel PKU mutation on haplotype 2 in French-Canadians.
@en
prefLabel
Novel PKU mutation on haplotype 2 in French-Canadians.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932
P1433
P1476
Novel PKU mutation on haplotype 2 in French-Canadians.
@en
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932