苯丙氨酸羟化酶基因大片段缺失是印度苯丙酮尿症的病因 - Suppr

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超能文献

Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India.

作者信息

Guldberg P, Henriksen K F, Mammen K C, Levy H L, Güttler F

机构信息

John F. Kennedy Institute, Glostrup, Denmark.

出版信息

J Inherit Metab Dis. 1997 Nov;20(6):845-6. doi: 10.1023/a:1005352725283.

DOI:10.1023/a:1005352725283

PMID:9427161

Abstract

摘要

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Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.韩国苯丙酮尿症患者PAH基因的突变分析及一种复发性缺失突变的特征描述

Exp Mol Med. 2008 Oct 31;40(5):533-40. doi: 10.3858/emm.2008.40.5.533.

Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.

J Inherit Metab Dis. 1999 Aug;22(6):687-92. doi: 10.1023/a:1005527731397.

本文引用的文献

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.美国苯丙氨酸羟化酶基因突变：母源性苯丙酮尿症协作研究报告

Am J Hum Genet. 1996 Jul;59(1):84-94.

A single origin of phenylketonuria in Yemenite Jews.也门犹太人苯丙酮尿症的单一起源。

Nature. 1990 Mar 8;344(6262):168-70. doi: 10.1038/344168a0.

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