西班牙苯丙酮尿症患者群体中的表型分布及相关基因型 - Suppr

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超能文献

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

作者信息

Martínez-Pardo M, Colmenares A R, García M J, Pérez B, Desviat L R, Ugarte M

机构信息

Hospital Ramón y Cajal, Madrid, Spain.

出版信息

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

DOI:10.1007/BF00711832

PMID:7807955

Abstract

摘要

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Phenotype distribution in the Spanish phenylketonuria population and related genotypes.西班牙苯丙酮尿症患者群体中的表型分布及相关基因型

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引用本文的文献

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.人类苯丙氨酸羟化酶突变与高苯丙氨酸血症表型：基因型-表型相关性的荟萃分析

Am J Hum Genet. 1997 Dec;61(6):1309-17. doi: 10.1086/301638.

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

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

本文引用的文献

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.西班牙的苯丙酮尿症：限制性片段长度多态性单倍型和连锁突变

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

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.苯丙酮尿症及相关高苯丙氨酸血症表型多样性的分子基础。

J Inherit Metab Dis. 1993;16(3):602-4. doi: 10.1007/BF00711693.

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.苯丙酮尿症及相关高苯丙氨酸血症的分子基础：人类苯丙氨酸羟化酶基因中的突变与多态性

Hum Mutat. 1992;1(1):13-23. doi: 10.1002/humu.1380010104.

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