日本人群中苯丙氨酸羟化酶（PAH）基因的限制性片段长度多态性 - Suppr

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超能文献

RFLPs at the PAH (phenylalanine hydroxylase) gene in the Japanese population.

作者信息

Araki K, Matsuo N, Kodoh J, Shimizu N

机构信息

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

出版信息

Nucleic Acids Res. 1991 Apr 25;19(8):1960. doi: 10.1093/nar/19.8.1960.

DOI:10.1093/nar/19.8.1960

PMID:1674375

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC328147/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/233e/328147/2672547f8164/nar00088-0217-a.jpg

相似文献

RFLPs at the PAH (phenylalanine hydroxylase) gene in the Japanese population.日本人群中苯丙氨酸羟化酶（PAH）基因的限制性片段长度多态性

Nucleic Acids Res. 1991 Apr 25;19(8):1960. doi: 10.1093/nar/19.8.1960.

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.在人苯丙氨酸羟化酶（PAH）基因座处通过聚合酶链反应（PCR）检测PvuII（Ea）限制性片段长度多态性（RFLP）

Nucleic Acids Res. 1991 Apr 25;19(8):1958.

Detection of the XmnI RFLP at the human PAH locus by PCR.通过聚合酶链反应检测人类苯丙氨酸羟化酶基因座处的XmnI限制性片段长度多态性。

Nucleic Acids Res. 1992 Feb 25;20(4):927. doi: 10.1093/nar/20.4.927-a.

PCR detection of the Bg1II RFLP at the human phenylalanine hydroxylase (PAH) locus.人苯丙氨酸羟化酶（PAH）基因座Bg1II限制性片段长度多态性的聚合酶链反应检测

Nucleic Acids Res. 1991 Apr 25;19(8):1958.

PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.在人苯丙氨酸羟化酶（PAH）基因座上对MspI（Aa）限制性片段长度多态性（RFLP）进行聚合酶链反应（PCR）检测。

Nucleic Acids Res. 1991 Apr 25;19(8):1959. doi: 10.1093/nar/19.8.1959.

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Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.苯丙氨酸羟化酶基因第7外显子的复发性无义突变。

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Ned Tijdschr Geneeskd. 1990 Oct 6;134(40):1954-8.

RFLP-discordance within the human phenylalanine hydroxylase locus.人类苯丙氨酸羟化酶基因座内的限制性片段长度多态性不一致性。

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Human parathyroid hormone-like peptide gene: HindIII and TaqI RFLPs.人甲状旁腺激素样肽基因：HindIII和TaqI限制性片段长度多态性

Nucleic Acids Res. 1990 Sep 11;18(17):5327. doi: 10.1093/nar/18.17.5327.

本文引用的文献

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.人类苯丙氨酸羟化酶基因座的广泛限制性酶切位点多态性及其在苯丙酮尿症产前诊断中的应用。

Am J Hum Genet. 1985 Jul;37(4):619-34.

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.人苯丙氨酸羟化酶全长互补DNA克隆的核苷酸序列及氨基酸序列

Biochemistry. 1985 Jan 29;24(3):556-61. doi: 10.1021/bi00324a002.

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.法国苯丙氨酸羟化酶缺乏症的临床和分子异质性

Am J Hum Genet. 1988 Dec;43(6):914-21.

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