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A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.

作者信息

Kleiman S, Schwartz G, Woo S L, Shiloh Y

机构信息

Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

出版信息

Hum Mutat. 1992;1(4):344-6. doi: 10.1002/humu.1380010414.

DOI:10.1002/humu.1380010414
PMID:1301943
Abstract
摘要

相似文献

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Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.通过多重连接依赖探针扩增(MLPA)分析鉴定导致苯丙酮尿症的PAH基因外显子缺失。
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[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
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Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.西班牙人群中苯丙氨酸羟化酶基因分析:突变谱及与基因内多态性标记的关联
Am J Hum Genet. 1997 Jan;60(1):95-102.