西班牙非苯丙酮尿症高苯丙氨酸血症的分子基础：A403V突变的患病率，一种具有高残余活性的突变 - Suppr

Suppr

超能文献

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.

作者信息

Desviat L R, Pérez B, Ugarte M

机构信息

Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.

出版信息

J Inherit Metab Dis. 1996;19(2):227-30. doi: 10.1007/BF01799436.

DOI:10.1007/BF01799436

PMID:8739972

Abstract

摘要

相似文献

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.

J Inherit Metab Dis. 1996;19(2):227-30. doi: 10.1007/BF01799436.

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

J Med Genet. 1998 Apr;35(4):301-4. doi: 10.1136/jmg.35.4.301.

Molecular basis of mild hyperphenylalaninaemia in Poland.

J Med Genet. 1997 Dec;34(12):1035-6. doi: 10.1136/jmg.34.12.1035.

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Eur J Hum Genet. 1999 Apr;7(3):386-92. doi: 10.1038/sj.ejhg.5200312.

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

J Inherit Metab Dis. 1994;17(2):215-22. doi: 10.1007/BF00711621.

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Hum Genet. 1990 Nov;86(1):69-72. doi: 10.1007/BF00205176.

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

Hum Genet. 1990 Jun;85(1):121-2. doi: 10.1007/BF00276336.

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.

Hum Mutat. 1994;4(2):114-8. doi: 10.1002/humu.1380040204.

Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.

Clin Genet. 2000 Jul;58(1):86-8. doi: 10.1034/j.1399-0004.2000.580118.x.

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

J Med Genet. 1993 Apr;30(4):284-8. doi: 10.1136/jmg.30.4.284.

引用本文的文献

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

PLoS One. 2019 Jan 22;14(1):e0211048. doi: 10.1371/journal.pone.0211048. eCollection 2019.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920.

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

J Med Genet. 1998 Apr;35(4):301-4. doi: 10.1136/jmg.35.4.301.

Molecular basis of mild hyperphenylalaninaemia in Poland.

J Med Genet. 1997 Dec;34(12):1035-6. doi: 10.1136/jmg.34.12.1035.

本文引用的文献

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703.

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468.

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

Genomics. 1994 May 15;21(2):453-5. doi: 10.1006/geno.1994.1296.

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832.

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.

Hum Mutat. 1995;5(2):188-90. doi: 10.1002/humu.1380050217.

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Am J Hum Genet. 1991 Aug;49(2):393-9.

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Nucleic Acids Res. 1991 Apr 11;19(7):1427-30. doi: 10.1093/nar/19.7.1427.

Molecular basis for nonphenylketonuria hyperphenylalaninemia.

Genomics. 1992 Sep;14(1):1-5. doi: 10.1016/s0888-7543(05)80274-5.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验