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。 - Suppr

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超能文献

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

作者信息

Güttler F, Guldberg P, Henriksen K F, Mikkelsen I, Olsen B, Lou H

机构信息

John F. Kennedy Institute, Glostrup, Denmark.

出版信息

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

DOI:10.1007/BF00711693

PMID:7609462

Abstract

摘要

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本文引用的文献

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.高苯丙氨酸血症：儿童期各种类型苯丙氨酸羟化酶缺乏症的诊断与分类

Acta Paediatr Scand Suppl. 1980;280:1-80.

Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.利用扩增单拷贝DNA的直接基因组测序对β地中海贫血突变进行特征分析。

Nature. 1987;330(6146):384-6. doi: 10.1038/330384a0.

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.通过聚合酶链反应进行DNA扩增来筛查苯丙酮尿症突变。

Lancet. 1988 Mar 5;1(8584):497-9. doi: 10.1016/s0140-6736(88)91295-0.

Molecular genetics of PKU.苯丙酮尿症的分子遗传学

J Inherit Metab Dis. 1986;9 Suppl 1:58-68. doi: 10.1007/BF01800859.

Carrier screening for cystic fibrosis and other autosomal recessive diseases.囊性纤维化及其他常染色体隐性疾病的携带者筛查。

Am J Hum Genet. 1990 Aug;47(2):359-61.

Molecular basis of phenotypic heterogeneity in phenylketonuria.苯丙酮尿症表型异质性的分子基础。

N Engl J Med. 1991 May 2;324(18):1232-8. doi: 10.1056/NEJM199105023241802.

PCR in the diagnosis of phenylketonuria.聚合酶链反应在苯丙酮尿症诊断中的应用

Ann Med. 1992 Jun;24(3):187-90. doi: 10.3109/07853899209147819.

Molecular basis for nonphenylketonuria hyperphenylalaninemia.非苯丙酮尿症高苯丙氨酸血症的分子基础。

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

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